Canonical Allele Identifier: CA363308522
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1201573673
gnomAD v3: 6-31355125-A-C
gnomAD v4: 6-31355125-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355125A>C , CM000668.2:g.31355125A>C GRCh38
NC_000006.11:g.31322902A>C , CM000668.1:g.31322902A>C GRCh37
NC_000006.10:g.31430881A>C NCBI36
NG_023187.1:g.7088T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3041T>G
ENST00000481849.6:n.2560T>G
ENST00000497377.6:n.2467T>G
ENST00000640094.2:c.895+192T>G ENSP00000491275.2:n.895+192T>G
ENST00000696558.1:c.1063T>G ENSP00000512716.1:n.1063T>G
ENST00000696559.1:c.994T>G ENSP00000512717.1:p.Cys332Gly
ENST00000696560.1:c.994T>G ENSP00000512718.1:p.Cys332Gly
ENST00000696561.1:c.994T>G ENSP00000512719.1:p.Cys332Gly
ENST00000696562.1:c.994T>G ENSP00000512720.1:p.Cys332Gly
ENST00000412585.7:c.994T>G MANE Select ENSP00000399168.2:p.Cys332Gly
ENST00000640094.1:c.88+192T>G ENSP00000491275.1:n.88+192T>G
ENST00000412585.6:c.994T>G ENSP00000399168.2:p.Cys332Gly
ENST00000463574.1:n.585T>G
NM_005514.6:c.994T>G NP_005505.2:p.Cys332Gly
XM_011514556.1:c.1027T>G XP_011512858.1:p.Cys343Gly
XM_011514557.1:c.895+192T>G XP_011512859.1:n.895+192T>G
XR_926175.1:n.1433T>G
NM_005514.7:c.994T>G NP_005505.2:p.Cys332Gly
NM_005514.8:c.994T>G MANE Select NP_005505.2:p.Cys332Gly