Canonical Allele Identifier: CA136866389

Gene: HLA-C

Linked Data

• dbSNP Id: rs41552417
• gnomAD v3: 6-31271097-C-G
• gnomAD v4: 6-31271097-C-G
• MyVariant Identifiers: chr6:g.31238874C>G (hg19) ; chr6:g.31271097C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271097C>G , CM000668.2:g.31271097C>G	GRCh38
NC_000006.11:g.31238874C>G , CM000668.1:g.31238874C>G	GRCh37
NC_000006.10:g.31346853C>G	NCBI36
NG_029422.2:g.6035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.595G>C MANE Select	ENSP00000365402.5:p.Gly199Arg
ENST00000376228.9:c.595G>C	ENSP00000365402.5:p.Gly199Arg
ENST00000376237.8:c.*182G>C	ENSP00000365412.4:n.*182G>C
ENST00000383329.7:c.595G>C	ENSP00000372819.3:p.Gly199Arg
ENST00000415537.1:c.593G>C
ENST00000487245.5:n.954G>C
ENST00000495835.1:n.784G>C
NM_002117.5:c.595G>C	NP_002108.4:p.Gly199Arg
NM_002117.6:c.595G>C MANE Select	NP_002108.4:p.Gly199Arg