Canonical Allele Identifier: CA12643925
Gene: ICA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.8137767C>A , CM000669.2:g.8137767C>A GRCh38
NC_000007.13:g.8177397C>A , CM000669.1:g.8177397C>A GRCh37
NC_000007.12:g.8143922C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000402384.8:c.1060+1073G>T MANE Select ENSP00000385570.3:n.1060+1073G>T
ENST00000650486.1:c.1057+1076G>T ENSP00000497455.1:n.1057+1076G>T
ENST00000265577.11:c.1057+1073G>T ENSP00000265577.7:n.1057+1073G>T
ENST00000339809.10:c.706-9625G>T ENSP00000341603.6:n.706-9625G>T
ENST00000396675.7:c.1060+1073G>T ENSP00000379908.3:n.1060+1073G>T
ENST00000401396.5:c.1024+1073G>T ENSP00000385305.1:n.1024+1073G>T
ENST00000402384.7:c.1060+1073G>T ENSP00000385570.3:n.1060+1073G>T
ENST00000406470.6:c.1060+1073G>T ENSP00000385651.2:n.1060+1073G>T
ENST00000422063.6:c.1147+1073G>T ENSP00000403982.2:n.1147+1073G>T
ENST00000455539.5:c.*1010+1073G>T ENSP00000410341.1:n.*1010+1073G>T
ENST00000486677.1:n.53-9625G>T
NM_001136020.2:c.1060+1073G>T NP_001129492.1:n.1060+1073G>T
NM_001276478.1:c.1057+1073G>T NP_001263407.1:n.1057+1073G>T
NM_004968.3:c.1060+1073G>T NP_004959.2:n.1060+1073G>T
NM_022307.2:c.1060+1073G>T NP_071682.1:n.1060+1073G>T
XM_005249735.3:c.1057+1073G>T XP_005249792.1:n.1057+1073G>T
XM_011515345.1:c.1147+1073G>T XP_011513647.1:n.1147+1073G>T
XM_011515346.1:c.1147+1073G>T XP_011513648.1:n.1147+1073G>T
XM_011515347.1:c.1147+1073G>T XP_011513649.1:n.1147+1073G>T
XM_011515348.1:c.1147+1073G>T XP_011513650.1:n.1147+1073G>T
XM_011515349.1:c.1147+1073G>T XP_011513651.1:n.1147+1073G>T
XM_011515350.1:c.1144+1073G>T XP_011513652.1:n.1144+1073G>T
XM_011515351.1:c.1144+1073G>T XP_011513653.1:n.1144+1073G>T
XM_011515352.1:c.1144+1073G>T XP_011513654.1:n.1144+1073G>T
XM_011515353.1:c.1144+1073G>T XP_011513655.1:n.1144+1073G>T
XM_011515354.1:c.925+1073G>T XP_011513656.1:n.925+1073G>T
XM_011515355.1:c.520+1073G>T XP_011513657.1:n.520+1073G>T
XM_011515356.1:c.520+1073G>T XP_011513658.1:n.520+1073G>T
XM_011515357.1:c.469+1073G>T XP_011513659.1:n.469+1073G>T
XR_926934.1:n.1414+1073G>T
NM_001350819.1:c.1060+1073G>T NP_001337748.1:n.1060+1073G>T
NM_001350820.1:c.1060+1073G>T NP_001337749.1:n.1060+1073G>T
NM_001350821.1:c.1057+1073G>T NP_001337750.1:n.1057+1073G>T
NM_001350823.1:c.1057+1073G>T NP_001337752.1:n.1057+1073G>T
NM_001350824.1:c.1057+1073G>T NP_001337753.1:n.1057+1073G>T
NM_001350825.1:c.1057+1073G>T NP_001337754.1:n.1057+1073G>T
NM_001350826.1:c.1147+1073G>T NP_001337755.1:n.1147+1073G>T
NM_001350827.1:c.1147+1073G>T NP_001337756.1:n.1147+1073G>T
NM_001350828.1:c.1144+1073G>T NP_001337757.1:n.1144+1073G>T
NM_001350829.1:c.1144+1073G>T NP_001337758.1:n.1144+1073G>T
NM_001350830.1:c.1081+1073G>T NP_001337759.1:n.1081+1073G>T
NM_001350831.1:c.997+1073G>T NP_001337760.1:n.997+1073G>T
NM_001350832.1:c.997+1073G>T NP_001337761.1:n.997+1073G>T
NM_001350833.1:c.997+1073G>T NP_001337762.1:n.997+1073G>T
NM_001350834.1:c.994+1073G>T NP_001337763.1:n.994+1073G>T
NM_001350835.1:c.838+1073G>T NP_001337764.1:n.838+1073G>T
NM_001350836.1:c.838+1073G>T NP_001337765.1:n.838+1073G>T
NM_001350837.1:c.838+1073G>T NP_001337766.1:n.838+1073G>T
NM_001350838.1:c.835+1073G>T NP_001337767.1:n.835+1073G>T
NR_146926.1:n.1366+1073G>T
NR_146927.1:n.1262+1073G>T
NR_146928.1:n.1324+1073G>T
NR_146929.1:n.1369+1073G>T
XM_011515347.3:c.1147+1073G>T XP_011513649.1:n.1147+1073G>T
XM_011515353.2:c.1144+1073G>T XP_011513655.1:n.1144+1073G>T
XM_011515355.3:c.520+1073G>T XP_011513657.1:n.520+1073G>T
XM_011515356.3:c.520+1073G>T XP_011513658.1:n.520+1073G>T
XM_011515357.2:c.469+1073G>T XP_011513659.1:n.469+1073G>T
XM_017012116.1:c.1144+1073G>T XP_016867605.1:n.1144+1073G>T
XM_017012125.1:c.838+1073G>T XP_016867614.1:n.838+1073G>T
XM_024446740.1:c.1318+1073G>T XP_024302508.1:n.1318+1073G>T
XM_024446741.1:c.1144+1073G>T XP_024302509.1:n.1144+1073G>T
XR_002956426.1:n.1343+1073G>T
NM_001136020.3:c.1060+1073G>T MANE Select NP_001129492.1:n.1060+1073G>T
NM_001276478.2:c.1057+1073G>T NP_001263407.1:n.1057+1073G>T
NM_001350819.2:c.1060+1073G>T NP_001337748.1:n.1060+1073G>T
NM_001350820.2:c.1060+1073G>T NP_001337749.1:n.1060+1073G>T
NM_001350821.2:c.1057+1073G>T NP_001337750.1:n.1057+1073G>T
NM_001350823.2:c.1057+1073G>T NP_001337752.1:n.1057+1073G>T
NM_001350824.2:c.1057+1073G>T NP_001337753.1:n.1057+1073G>T
NM_001350825.2:c.1057+1073G>T NP_001337754.1:n.1057+1073G>T
NM_001350826.2:c.1147+1073G>T NP_001337755.1:n.1147+1073G>T
NM_001350827.2:c.1147+1073G>T NP_001337756.1:n.1147+1073G>T
NM_001350828.2:c.1144+1073G>T NP_001337757.1:n.1144+1073G>T
NM_001350829.2:c.1144+1073G>T NP_001337758.1:n.1144+1073G>T
NM_001350830.2:c.1081+1073G>T NP_001337759.1:n.1081+1073G>T
NM_001350831.2:c.997+1073G>T NP_001337760.1:n.997+1073G>T
NM_001350832.2:c.997+1073G>T NP_001337761.1:n.997+1073G>T
NM_001350833.2:c.997+1073G>T NP_001337762.1:n.997+1073G>T
NM_001350834.2:c.994+1073G>T NP_001337763.1:n.994+1073G>T
NM_001350835.2:c.838+1073G>T NP_001337764.1:n.838+1073G>T
NM_001350836.2:c.838+1073G>T NP_001337765.1:n.838+1073G>T
NM_001350837.2:c.838+1073G>T NP_001337766.1:n.838+1073G>T
NM_001350838.2:c.835+1073G>T NP_001337767.1:n.835+1073G>T
NM_022307.3:c.1060+1073G>T NP_071682.1:n.1060+1073G>T
NR_146926.2:n.1252+1073G>T
NR_146927.2:n.1148+1073G>T
NR_146928.2:n.1210+1073G>T
NR_146929.2:n.1255+1073G>T
NM_004968.4:c.1060+1073G>T NP_004959.2:n.1060+1073G>T
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