Canonical Allele Identifier: CA136866454

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860536
• gnomAD v4: 6-31271113-G-C
• MyVariant Identifiers: chr6:g.31238890G>C (hg19) ; chr6:g.31271113G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271113G>C , CM000668.2:g.31271113G>C	GRCh38
NC_000006.11:g.31238890G>C , CM000668.1:g.31238890G>C	GRCh37
NC_000006.10:g.31346869G>C	NCBI36
NG_029422.2:g.6019C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.579C>G MANE Select	ENSP00000365402.5:p.Arg193=
ENST00000376228.9:c.579C>G	ENSP00000365402.5:p.Arg193=
ENST00000376237.8:c.*166C>G	ENSP00000365412.4:n.*166C>G
ENST00000383329.7:c.579C>G	ENSP00000372819.3:p.Arg193=
ENST00000415537.1:c.577C>G
ENST00000484378.1:n.848C>G
ENST00000487245.5:n.938C>G
ENST00000495835.1:n.768C>G
NM_002117.5:c.579C>G	NP_002108.4:p.Arg193=
NM_002117.6:c.579C>G MANE Select	NP_002108.4:p.Arg193=