Canonical Allele Identifier: CA363311390
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31355576-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355576G>T , CM000668.2:g.31355576G>T GRCh38
NC_000006.11:g.31323353G>T , CM000668.1:g.31323353G>T GRCh37
NC_000006.10:g.31431332G>T NCBI36
NG_023187.1:g.6637C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2683C>A
ENST00000481849.6:n.2109C>A
ENST00000497377.6:n.2109C>A
ENST00000640094.2:c.636C>A ENSP00000491275.2:p.His212Gln
ENST00000696558.1:c.705C>A ENSP00000512716.1:n.705C>A
ENST00000696559.1:c.636C>A ENSP00000512717.1:p.His212Gln
ENST00000696560.1:c.636C>A ENSP00000512718.1:p.His212Gln
ENST00000696561.1:c.636C>A ENSP00000512719.1:p.His212Gln
ENST00000696562.1:c.636C>A ENSP00000512720.1:p.His212Gln
ENST00000412585.7:c.636C>A MANE Select ENSP00000399168.2:p.His212Gln
ENST00000412585.6:c.636C>A ENSP00000399168.2:p.His212Gln
ENST00000434333.1:c.669C>A ENSP00000405931.1:p.His223Gln
ENST00000463574.1:n.227C>A
ENST00000474381.1:n.1085C>A
ENST00000498007.1:n.902C>A
NM_005514.6:c.636C>A NP_005505.2:p.His212Gln
XM_011514556.1:c.669C>A XP_011512858.1:p.His223Gln
XM_011514557.1:c.636C>A XP_011512859.1:p.His212Gln
XR_926175.1:n.1075C>A
NM_005514.7:c.636C>A NP_005505.2:p.His212Gln
NM_005514.8:c.636C>A MANE Select NP_005505.2:p.His212Gln