Canonical Allele Identifier: CA363315108
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1290354847
gnomAD v2: 6-31324899-G-A
gnomAD v4: 6-31357122-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31357122G>A , CM000668.2:g.31357122G>A GRCh38
NC_000006.11:g.31324899G>A , CM000668.1:g.31324899G>A GRCh37
NC_000006.10:g.31432878G>A NCBI36
NG_023187.1:g.5091C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.1510C>T
ENST00000481849.6:n.1510C>T
ENST00000497377.6:n.1510C>T
ENST00000640094.2:c.37C>T ENSP00000491275.2:p.Leu13Phe
ENST00000696558.1:c.37C>T ENSP00000512716.1:p.Leu13Phe
ENST00000696559.1:c.37C>T ENSP00000512717.1:p.Leu13Phe
ENST00000696560.1:c.37C>T ENSP00000512718.1:p.Leu13Phe
ENST00000696561.1:c.37C>T ENSP00000512719.1:p.Leu13Phe
ENST00000696562.1:c.37C>T ENSP00000512720.1:p.Leu13Phe
ENST00000412585.7:c.37C>T MANE Select ENSP00000399168.2:p.Leu13Phe
ENST00000412585.6:c.37C>T ENSP00000399168.2:p.Leu13Phe
ENST00000434333.1:c.-59C>T ENSP00000405931.1:n.-59C>T
ENST00000498007.1:n.58C>T
ENST00000603274.1:n.476G>A
NM_005514.6:c.37C>T NP_005505.2:p.Leu13Phe
XM_011514557.1:c.37C>T XP_011512859.1:p.Leu13Phe
XR_926175.1:n.47C>T
NM_005514.7:c.37C>T NP_005505.2:p.Leu13Phe
NM_005514.8:c.37C>T MANE Select NP_005505.2:p.Leu13Phe