Canonical Allele Identifier: CA363307917
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31354505-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354505G>A , CM000668.2:g.31354505G>A GRCh38
NC_000006.11:g.31322282G>A , CM000668.1:g.31322282G>A GRCh37
NC_000006.10:g.31430261G>A NCBI36
NG_023187.1:g.7708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3114C>T
ENST00000481849.6:n.3074C>T
ENST00000497377.6:n.2981C>T
ENST00000640094.2:c.950C>T ENSP00000491275.2:p.Ser317Phe
ENST00000696558.1:c.1136C>T ENSP00000512716.1:n.1136C>T
ENST00000696559.1:c.1067C>T ENSP00000512717.1:p.Ser356Phe
ENST00000696560.1:c.1067C>T ENSP00000512718.1:p.Ser356Phe
ENST00000696561.1:c.1067C>T ENSP00000512719.1:p.Ser356Phe
ENST00000696562.1:c.1067C>T ENSP00000512720.1:p.Ser356Phe
ENST00000412585.7:c.1067C>T MANE Select ENSP00000399168.2:p.Ser356Phe
ENST00000640094.1:c.143C>T ENSP00000491275.1:p.Ser48Phe
ENST00000412585.6:c.1067C>T ENSP00000399168.2:p.Ser356Phe
ENST00000481849.5:n.302C>T
ENST00000497377.5:n.466C>T
NM_005514.6:c.1067C>T NP_005505.2:p.Ser356Phe
XM_011514556.1:c.1100C>T XP_011512858.1:p.Ser367Phe
XM_011514557.1:c.950C>T XP_011512859.1:p.Ser317Phe
XR_926175.1:n.1506C>T
NM_005514.7:c.1067C>T NP_005505.2:p.Ser356Phe
NM_005514.8:c.1067C>T MANE Select NP_005505.2:p.Ser356Phe