Canonical Allele Identifier: CA2841132725
Gene: SLC39A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415181G>T , CM000673.2:g.47415181G>T GRCh38
NC_000011.9:g.47436732G>T , CM000673.1:g.47436732G>T GRCh37
NC_000011.8:g.47393308G>T NCBI36
NG_017073.1:g.11687G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1040+22G>T MANE Select ENSP00000354689.4:n.1040+22G>T
ENST00000354884.8:c.1019+22G>T ENSP00000346956.4:n.1019+22G>T
ENST00000362021.8:c.1040+22G>T ENSP00000354689.4:n.1040+22G>T
ENST00000524886.1:n.298+22G>T
ENST00000524928.1:c.*1264G>T ENSP00000437186.1:n.*1264G>T
ENST00000527829.1:n.294G>T
ENST00000533076.5:c.*37+22G>T ENSP00000434290.1:n.*37+22G>T
NM_001128225.2:c.1040+22G>T NP_001121697.1:n.1040+22G>T
NM_152264.4:c.1019+22G>T NP_689477.2:n.1019+22G>T
XM_006718381.2:c.1064+22G>T XP_006718444.1:n.1064+22G>T
XM_006718383.2:c.956+22G>T XP_006718446.1:n.956+22G>T
XM_006718384.2:c.*37+22G>T XP_006718447.1:n.*37+22G>T
XM_006718385.2:c.*37+22G>T XP_006718448.1:n.*37+22G>T
XM_011520466.1:c.1085+22G>T XP_011518768.1:n.1085+22G>T
XM_011520467.1:c.1040+22G>T XP_011518769.1:n.1040+22G>T
XM_011520468.1:c.1040+22G>T XP_011518770.1:n.1040+22G>T
XM_011520469.1:c.977+22G>T XP_011518771.1:n.977+22G>T
XM_011520470.1:c.932+22G>T XP_011518772.1:n.932+22G>T
XR_242832.1:n.1425+22G>T
XR_428862.2:n.1100+22G>T
XR_428863.2:n.1096+22G>T
XR_930928.1:n.1121+22G>T
NM_001330245.1:c.*37+22G>T NP_001317174.1:n.*37+22G>T
NR_134854.1:n.1281+22G>T
XM_006718381.3:c.1064+22G>T XP_006718444.1:n.1064+22G>T
XM_006718383.3:c.956+22G>T XP_006718446.1:n.956+22G>T
XM_011520468.3:c.1040+22G>T XP_011518770.1:n.1040+22G>T
XM_011520470.2:c.932+22G>T XP_011518772.1:n.932+22G>T
XM_017018540.2:c.1019+22G>T XP_016874029.1:n.1019+22G>T
XM_017018541.2:c.911+22G>T XP_016874030.1:n.911+22G>T
XM_024448762.1:c.1169+22G>T XP_024304530.1:n.1169+22G>T
XR_001748027.1:n.1240+22G>T
XR_001748028.1:n.1222+22G>T
XR_428862.3:n.1100+22G>T
XR_428863.3:n.1096+22G>T
XR_930928.2:n.1121+22G>T
NM_001128225.3:c.1040+22G>T MANE Select NP_001121697.2:n.1040+22G>T
NM_001330245.2:c.*37+22G>T NP_001317174.2:n.*37+22G>T
NM_152264.5:c.1019+22G>T NP_689477.3:n.1019+22G>T