Canonical Allele Identifier: CA363311329
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs281864639
gnomAD v3: 6-31355564-G-C
gnomAD v4: 6-31355564-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355564G>C , CM000668.2:g.31355564G>C GRCh38
NC_000006.11:g.31323341G>C , CM000668.1:g.31323341G>C GRCh37
NC_000006.10:g.31431320G>C NCBI36
NG_023187.1:g.6649C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.2695C>G
ENST00000481849.6:n.2121C>G
ENST00000497377.6:n.2121C>G
ENST00000640094.2:c.648C>G ENSP00000491275.2:p.His216Gln
ENST00000696558.1:c.717C>G ENSP00000512716.1:n.717C>G
ENST00000696559.1:c.648C>G ENSP00000512717.1:p.His216Gln
ENST00000696560.1:c.648C>G ENSP00000512718.1:p.His216Gln
ENST00000696561.1:c.648C>G ENSP00000512719.1:p.His216Gln
ENST00000696562.1:c.648C>G ENSP00000512720.1:p.His216Gln
ENST00000412585.7:c.648C>G MANE Select ENSP00000399168.2:p.His216Gln
ENST00000412585.6:c.648C>G ENSP00000399168.2:p.His216Gln
ENST00000434333.1:c.681C>G ENSP00000405931.1:p.His227Gln
ENST00000463574.1:n.239C>G
ENST00000474381.1:n.1097C>G
ENST00000498007.1:n.914C>G
NM_005514.6:c.648C>G NP_005505.2:p.His216Gln
XM_011514556.1:c.681C>G XP_011512858.1:p.His227Gln
XM_011514557.1:c.648C>G XP_011512859.1:p.His216Gln
XR_926175.1:n.1087C>G
NM_005514.7:c.648C>G NP_005505.2:p.His216Gln
NM_005514.8:c.648C>G MANE Select NP_005505.2:p.His216Gln