Canonical Allele Identifier: CA363321785

Gene: HLA-C

Linked Data

• dbSNP Id: rs41547622
• gnomAD v2: 6-31238125-C-T
• gnomAD v3: 6-31270348-C-T
• gnomAD v4: 6-31270348-C-T
• MyVariant Identifiers: chr6:g.31238125C>T (hg19) ; chr6:g.31270348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270348C>T , CM000668.2:g.31270348C>T	GRCh38
NC_000006.11:g.31238125C>T , CM000668.1:g.31238125C>T	GRCh37
NC_000006.10:g.31346104C>T	NCBI36
NG_029422.2:g.6784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.757G>A MANE Select	ENSP00000365402.5:p.Glu253Lys
ENST00000376228.9:c.757G>A	ENSP00000365402.5:p.Glu253Lys
ENST00000376237.8:c.*344G>A	ENSP00000365412.4:n.*344G>A
ENST00000383329.7:c.757G>A	ENSP00000372819.3:p.Glu253Lys
ENST00000415537.1:c.665-17G>A
ENST00000470363.5:n.75G>A
ENST00000487245.5:n.1116G>A
ENST00000495835.1:n.946G>A
NM_002117.5:c.757G>A	NP_002108.4:p.Glu253Lys
NM_002117.6:c.757G>A MANE Select	NP_002108.4:p.Glu253Lys