Canonical Allele Identifier: CA363307896
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31354500-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354500C>G , CM000668.2:g.31354500C>G GRCh38
NC_000006.11:g.31322277C>G , CM000668.1:g.31322277C>G GRCh37
NC_000006.10:g.31430256C>G NCBI36
NG_023187.1:g.7713G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3119G>C
ENST00000481849.6:n.3079G>C
ENST00000497377.6:n.2986G>C
ENST00000640094.2:c.955G>C ENSP00000491275.2:p.Val319Leu
ENST00000696558.1:c.1141G>C ENSP00000512716.1:n.1141G>C
ENST00000696559.1:c.1072G>C ENSP00000512717.1:p.Val358Leu
ENST00000696560.1:c.1072G>C ENSP00000512718.1:p.Val358Leu
ENST00000696561.1:c.1072G>C ENSP00000512719.1:p.Val358Leu
ENST00000696562.1:c.1072G>C ENSP00000512720.1:p.Val358Leu
ENST00000412585.7:c.1072G>C MANE Select ENSP00000399168.2:p.Val358Leu
ENST00000412585.6:c.1072G>C ENSP00000399168.2:p.Val358Leu
ENST00000481849.5:n.307G>C
ENST00000497377.5:n.471G>C
NM_005514.6:c.1072G>C NP_005505.2:p.Val358Leu
XM_011514556.1:c.1105G>C XP_011512858.1:p.Val369Leu
XM_011514557.1:c.955G>C XP_011512859.1:p.Val319Leu
XR_926175.1:n.1511G>C
NM_005514.7:c.1072G>C NP_005505.2:p.Val358Leu
NM_005514.8:c.1072G>C MANE Select NP_005505.2:p.Val358Leu