Canonical Allele Identifier: CA3711217
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs756666358
gnomAD v2: 6-31322412-G-T
gnomAD v3: 6-31354635-G-T
gnomAD v4: 6-31354635-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354635G>T , CM000668.2:g.31354635G>T GRCh38
NC_000006.11:g.31322412G>T , CM000668.1:g.31322412G>T GRCh37
NC_000006.10:g.31430391G>T NCBI36
NG_023187.1:g.7578C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3090C>A
ENST00000481849.6:n.3050C>A
ENST00000497377.6:n.2957C>A
ENST00000640094.2:c.926C>A ENSP00000491275.2:p.Ala309Glu
ENST00000696558.1:c.1112C>A ENSP00000512716.1:n.1112C>A
ENST00000696559.1:c.1043C>A ENSP00000512717.1:p.Ala348Glu
ENST00000696560.1:c.1043C>A ENSP00000512718.1:p.Ala348Glu
ENST00000696561.1:c.1043C>A ENSP00000512719.1:p.Ala348Glu
ENST00000696562.1:c.1043C>A ENSP00000512720.1:p.Ala348Glu
ENST00000412585.7:c.1043C>A MANE Select ENSP00000399168.2:p.Ala348Glu
ENST00000640094.1:c.119C>A ENSP00000491275.1:p.Ala40Glu
ENST00000412585.6:c.1043C>A ENSP00000399168.2:p.Ala348Glu
ENST00000481849.5:n.172C>A
ENST00000497377.5:n.442C>A
NM_005514.6:c.1043C>A NP_005505.2:p.Ala348Glu
XM_011514556.1:c.1076C>A XP_011512858.1:p.Ala359Glu
XM_011514557.1:c.926C>A XP_011512859.1:p.Ala309Glu
XR_926175.1:n.1482C>A
NM_005514.7:c.1043C>A NP_005505.2:p.Ala348Glu
NM_005514.8:c.1043C>A MANE Select NP_005505.2:p.Ala348Glu