Canonical Allele Identifier: CA136866295

Gene: HLA-C

Linked Data

• dbSNP Id: rs878997630
• gnomAD v4: 6-31271071-A-T
• MyVariant Identifiers: chr6:g.31238848A>T (hg19) ; chr6:g.31271071A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271071A>T , CM000668.2:g.31271071A>T	GRCh38
NC_000006.11:g.31238848A>T , CM000668.1:g.31238848A>T	GRCh37
NC_000006.10:g.31346827A>T	NCBI36
NG_029422.2:g.6061T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.619+2T>A MANE Select	ENSP00000365402.5:n.619+2T>A
ENST00000376228.9:c.619+2T>A	ENSP00000365402.5:n.619+2T>A
ENST00000376237.8:c.*206+2T>A	ENSP00000365412.4:n.*206+2T>A
ENST00000383329.7:c.619+2T>A	ENSP00000372819.3:n.619+2T>A
ENST00000415537.1:c.617+2T>A
ENST00000487245.5:n.978+2T>A
ENST00000495835.1:n.808+2T>A
NM_002117.5:c.619+2T>A	NP_002108.4:n.619+2T>A
NM_002117.6:c.619+2T>A MANE Select	NP_002108.4:n.619+2T>A