Canonical Allele Identifier: CA363308741
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs41562117
gnomAD v3: 6-31355152-T-A
gnomAD v4: 6-31355152-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355152T>A , CM000668.2:g.31355152T>A GRCh38
NC_000006.11:g.31322929T>A , CM000668.1:g.31322929T>A GRCh37
NC_000006.10:g.31430908T>A NCBI36
NG_023187.1:g.7061A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3014A>T
ENST00000481849.6:n.2533A>T
ENST00000497377.6:n.2440A>T
ENST00000640094.2:c.895+165A>T ENSP00000491275.2:n.895+165A>T
ENST00000696558.1:c.1036A>T ENSP00000512716.1:n.1036A>T
ENST00000696559.1:c.967A>T ENSP00000512717.1:p.Ile323Phe
ENST00000696560.1:c.967A>T ENSP00000512718.1:p.Ile323Phe
ENST00000696561.1:c.967A>T ENSP00000512719.1:p.Ile323Phe
ENST00000696562.1:c.967A>T ENSP00000512720.1:p.Ile323Phe
ENST00000412585.7:c.967A>T MANE Select ENSP00000399168.2:p.Ile323Phe
ENST00000640094.1:c.88+165A>T ENSP00000491275.1:n.88+165A>T
ENST00000412585.6:c.967A>T ENSP00000399168.2:p.Ile323Phe
ENST00000463574.1:n.558A>T
NM_005514.6:c.967A>T NP_005505.2:p.Ile323Phe
XM_011514556.1:c.1000A>T XP_011512858.1:p.Ile334Phe
XM_011514557.1:c.895+165A>T XP_011512859.1:n.895+165A>T
XR_926175.1:n.1406A>T
NM_005514.7:c.967A>T NP_005505.2:p.Ile323Phe
NM_005514.8:c.967A>T MANE Select NP_005505.2:p.Ile323Phe