Canonical Allele Identifier: CA10864746
Gene: SLC44A3 HGNC NCBI

Linked Data

dbSNP Id: rs17520351
gnomAD v2: 1-95334187-C-T
gnomAD v3: 1-94868631-C-T
gnomAD v4: 1-94868631-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94868631C>T , CM000663.2:g.94868631C>T GRCh38
NC_000001.10:g.95334187C>T , CM000663.1:g.95334187C>T GRCh37
NC_000001.9:g.95106775C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000271227.11:c.1482+1214C>T MANE Select ENSP00000271227.6:n.1482+1214C>T
ENST00000271227.10:c.1482+1214C>T ENSP00000271227.6:n.1482+1214C>T
ENST00000446120.6:c.1374+1214C>T ENSP00000389143.2:n.1374+1214C>T
ENST00000467909.5:c.1338+1214C>T ENSP00000432789.1:n.1338+1214C>T
ENST00000475883.5:c.1456+1214C>T
ENST00000527077.5:c.1278+1214C>T ENSP00000433641.1:n.1278+1214C>T
ENST00000529450.5:c.1383+1214C>T ENSP00000431836.1:n.1383+1214C>T
ENST00000530397.1:n.1176+1214C>T
ENST00000532427.5:c.1242+1214C>T ENSP00000436661.1:n.1242+1214C>T
ENST00000532670.1:c.87+1214C>T ENSP00000432880.1:n.87+1214C>T
NM_001114106.2:c.1482+1214C>T NP_001107578.1:n.1482+1214C>T
NM_001258340.1:c.1479+1214C>T NP_001245269.1:n.1479+1214C>T
NM_001258341.1:c.1383+1214C>T NP_001245270.1:n.1383+1214C>T
NM_001258342.1:c.1374+1214C>T NP_001245271.1:n.1374+1214C>T
NM_001258343.1:c.1278+1214C>T NP_001245272.1:n.1278+1214C>T
NM_001301079.1:c.1242+1214C>T NP_001288008.1:n.1242+1214C>T
NM_152369.4:c.1338+1214C>T NP_689582.2:n.1338+1214C>T
XM_005270440.2:c.1386+1214C>T XP_005270497.1:n.1386+1214C>T
XM_005270441.2:c.1338+1214C>T XP_005270498.1:n.1338+1214C>T
XM_005270442.1:c.1482+1214C>T XP_005270499.1:n.1482+1214C>T
XM_011540632.1:c.1191+1214C>T XP_011538934.1:n.1191+1214C>T
XM_011540633.1:c.1095+1214C>T XP_011538935.1:n.1095+1214C>T
XM_011540634.1:c.1482+1214C>T XP_011538936.1:n.1482+1214C>T
XM_011540635.1:c.1482+1214C>T XP_011538937.1:n.1482+1214C>T
XM_011540636.1:c.1386+1214C>T XP_011538938.1:n.1386+1214C>T
XR_946543.1:n.1583+1214C>T
NM_001350223.1:c.1191+1214C>T NP_001337152.1:n.1191+1214C>T
NR_146575.1:n.1592+1214C>T
XM_005270442.2:c.1482+1214C>T XP_005270499.1:n.1482+1214C>T
XM_011540633.2:c.1095+1214C>T XP_011538935.1:n.1095+1214C>T
XM_011540635.3:c.1482+1214C>T XP_011538937.1:n.1482+1214C>T
XM_011540636.3:c.1386+1214C>T XP_011538938.1:n.1386+1214C>T
XM_017000262.2:c.1371+1214C>T XP_016855751.1:n.1371+1214C>T
XM_017000263.1:c.1335+1214C>T XP_016855752.1:n.1335+1214C>T
XM_017000264.2:c.1479+1214C>T XP_016855753.1:n.1479+1214C>T
XM_017000265.1:c.1386+1214C>T XP_016855754.1:n.1386+1214C>T
XM_017000266.2:c.1482+1214C>T XP_016855755.1:n.1482+1214C>T
XR_001736961.2:n.1389+1214C>T
XR_001736962.2:n.1386+1214C>T
XR_946543.2:n.1555+1214C>T
NM_001114106.3:c.1482+1214C>T MANE Select NP_001107578.1:n.1482+1214C>T
NM_001258340.2:c.1479+1214C>T NP_001245269.1:n.1479+1214C>T
NM_001258341.2:c.1383+1214C>T NP_001245270.1:n.1383+1214C>T
NM_001258342.2:c.1374+1214C>T NP_001245271.1:n.1374+1214C>T
NM_001258343.2:c.1278+1214C>T NP_001245272.1:n.1278+1214C>T
NM_001301079.2:c.1242+1214C>T NP_001288008.1:n.1242+1214C>T
NM_152369.5:c.1338+1214C>T NP_689582.2:n.1338+1214C>T
NR_146575.2:n.1577+1214C>T