Canonical Allele Identifier: CA363308639
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs781295988
gnomAD v3: 6-31355140-C-A
gnomAD v4: 6-31355140-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355140C>A , CM000668.2:g.31355140C>A GRCh38
NC_000006.11:g.31322917C>A , CM000668.1:g.31322917C>A GRCh37
NC_000006.10:g.31430896C>A NCBI36
NG_023187.1:g.7073G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.3026G>T
ENST00000481849.6:n.2545G>T
ENST00000497377.6:n.2452G>T
ENST00000640094.2:c.895+177G>T ENSP00000491275.2:n.895+177G>T
ENST00000696558.1:c.1048G>T ENSP00000512716.1:n.1048G>T
ENST00000696559.1:c.979G>T ENSP00000512717.1:p.Val327Phe
ENST00000696560.1:c.979G>T ENSP00000512718.1:p.Val327Phe
ENST00000696561.1:c.979G>T ENSP00000512719.1:p.Val327Phe
ENST00000696562.1:c.979G>T ENSP00000512720.1:p.Val327Phe
ENST00000412585.7:c.979G>T MANE Select ENSP00000399168.2:p.Val327Phe
ENST00000640094.1:c.88+177G>T ENSP00000491275.1:n.88+177G>T
ENST00000412585.6:c.979G>T ENSP00000399168.2:p.Val327Phe
ENST00000463574.1:n.570G>T
NM_005514.6:c.979G>T NP_005505.2:p.Val327Phe
XM_011514556.1:c.1012G>T XP_011512858.1:p.Val338Phe
XM_011514557.1:c.895+177G>T XP_011512859.1:n.895+177G>T
XR_926175.1:n.1418G>T
NM_005514.7:c.979G>T NP_005505.2:p.Val327Phe
NM_005514.8:c.979G>T MANE Select NP_005505.2:p.Val327Phe