Canonical Allele Identifier: CA363309059
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs2113735576
gnomAD v3: 6-31355197-T-G
gnomAD v4: 6-31355197-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355197T>G , CM000668.2:g.31355197T>G GRCh38
NC_000006.11:g.31322974T>G , CM000668.1:g.31322974T>G GRCh37
NC_000006.10:g.31430953T>G NCBI36
NG_023187.1:g.7016A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2969A>C
ENST00000481849.6:n.2488A>C
ENST00000497377.6:n.2395A>C
ENST00000640094.2:c.895+120A>C ENSP00000491275.2:n.895+120A>C
ENST00000696558.1:c.991A>C ENSP00000512716.1:n.991A>C
ENST00000696559.1:c.922A>C ENSP00000512717.1:p.Ile308Leu
ENST00000696560.1:c.922A>C ENSP00000512718.1:p.Ile308Leu
ENST00000696561.1:c.922A>C ENSP00000512719.1:p.Ile308Leu
ENST00000696562.1:c.922A>C ENSP00000512720.1:p.Ile308Leu
ENST00000412585.7:c.922A>C MANE Select ENSP00000399168.2:p.Ile308Leu
ENST00000640094.1:c.88+120A>C ENSP00000491275.1:n.88+120A>C
ENST00000412585.6:c.922A>C ENSP00000399168.2:p.Ile308Leu
ENST00000463574.1:n.513A>C
NM_005514.6:c.922A>C NP_005505.2:p.Ile308Leu
XM_011514556.1:c.955A>C XP_011512858.1:p.Ile319Leu
XM_011514557.1:c.895+120A>C XP_011512859.1:n.895+120A>C
XR_926175.1:n.1361A>C
NM_005514.7:c.922A>C NP_005505.2:p.Ile308Leu
NM_005514.8:c.922A>C MANE Select NP_005505.2:p.Ile308Leu