Canonical Allele Identifier: CA363311336
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v3: 6-31355565-T-G
gnomAD v4: 6-31355565-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355565T>G , CM000668.2:g.31355565T>G GRCh38
NC_000006.11:g.31323342T>G , CM000668.1:g.31323342T>G GRCh37
NC_000006.10:g.31431321T>G NCBI36
NG_023187.1:g.6648A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.2694A>C
ENST00000481849.6:n.2120A>C
ENST00000497377.6:n.2120A>C
ENST00000640094.2:c.647A>C ENSP00000491275.2:p.His216Pro
ENST00000696558.1:c.716A>C ENSP00000512716.1:n.716A>C
ENST00000696559.1:c.647A>C ENSP00000512717.1:p.His216Pro
ENST00000696560.1:c.647A>C ENSP00000512718.1:p.His216Pro
ENST00000696561.1:c.647A>C ENSP00000512719.1:p.His216Pro
ENST00000696562.1:c.647A>C ENSP00000512720.1:p.His216Pro
ENST00000412585.7:c.647A>C MANE Select ENSP00000399168.2:p.His216Pro
ENST00000412585.6:c.647A>C ENSP00000399168.2:p.His216Pro
ENST00000434333.1:c.680A>C ENSP00000405931.1:p.His227Pro
ENST00000463574.1:n.238A>C
ENST00000474381.1:n.1096A>C
ENST00000498007.1:n.913A>C
NM_005514.6:c.647A>C NP_005505.2:p.His216Pro
XM_011514556.1:c.680A>C XP_011512858.1:p.His227Pro
XM_011514557.1:c.647A>C XP_011512859.1:p.His216Pro
XR_926175.1:n.1086A>C
NM_005514.7:c.647A>C NP_005505.2:p.His216Pro
NM_005514.8:c.647A>C MANE Select NP_005505.2:p.His216Pro