Canonical Allele Identifier: CA363312154

Gene: HLA-B

Linked Data

• dbSNP Id: rs2113742581
• gnomAD v3: 6-31356188-T-G
• gnomAD v4: 6-31356188-T-G
• MyVariant Identifiers: chr6:g.31323965T>G (hg19) ; chr6:g.31356188T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356188T>G , CM000668.2:g.31356188T>G	GRCh38
NC_000006.11:g.31323965T>G , CM000668.1:g.31323965T>G	GRCh37
NC_000006.10:g.31431944T>G	NCBI36
NG_023187.1:g.6025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.2071A>C
ENST00000481849.6:n.2071A>C
ENST00000497377.6:n.2071A>C
ENST00000640094.2:c.598A>C	ENSP00000491275.2:p.Lys200Gln
ENST00000696558.1:c.598A>C	ENSP00000512716.1:p.Lys200Gln
ENST00000696559.1:c.598A>C	ENSP00000512717.1:p.Lys200Gln
ENST00000696560.1:c.598A>C	ENSP00000512718.1:p.Lys200Gln
ENST00000696561.1:c.598A>C	ENSP00000512719.1:p.Lys200Gln
ENST00000696562.1:c.598A>C	ENSP00000512720.1:p.Lys200Gln
ENST00000412585.7:c.598A>C MANE Select	ENSP00000399168.2:p.Lys200Gln
ENST00000412585.6:c.598A>C	ENSP00000399168.2:p.Lys200Gln
ENST00000434333.1:c.631A>C	ENSP00000405931.1:p.Lys211Gln
ENST00000474381.1:n.473A>C
ENST00000498007.1:n.864A>C
NM_005514.6:c.598A>C	NP_005505.2:p.Lys200Gln
XM_011514556.1:c.631A>C	XP_011512858.1:p.Lys211Gln
XM_011514557.1:c.598A>C	XP_011512859.1:p.Lys200Gln
XR_926175.1:n.608A>C
NM_005514.7:c.598A>C	NP_005505.2:p.Lys200Gln
NM_005514.8:c.598A>C MANE Select	NP_005505.2:p.Lys200Gln