Canonical Allele Identifier: CA3710713

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860510
• ExAC: 6:31238950 C / T
• gnomAD v2: 6-31238950-C-T
• gnomAD v3: 6-31271173-C-T
• gnomAD v4: 6-31271173-C-T
• MyVariant Identifiers: chr6:g.31238950C>T (hg19) ; chr6:g.31271173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271173C>T , CM000668.2:g.31271173C>T	GRCh38
NC_000006.11:g.31238950C>T , CM000668.1:g.31238950C>T	GRCh37
NC_000006.10:g.31346929C>T	NCBI36
NG_029422.2:g.5959G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.519G>A MANE Select	ENSP00000365402.5:p.Ala173=
ENST00000376228.9:c.519G>A	ENSP00000365402.5:p.Ala173=
ENST00000376237.8:c.*106G>A	ENSP00000365412.4:n.*106G>A
ENST00000383329.7:c.519G>A	ENSP00000372819.3:p.Ala173=
ENST00000415537.1:c.517G>A
ENST00000484378.1:n.788G>A
ENST00000487245.5:n.878G>A
ENST00000495835.1:n.708G>A
NM_002117.5:c.519G>A	NP_002108.4:p.Ala173=
NM_002117.6:c.519G>A MANE Select	NP_002108.4:p.Ala173=