Canonical Allele Identifier: CA363322322

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270410-A-G
• gnomAD v4: 6-31270410-A-G
• MyVariant Identifiers: chr6:g.31238187A>G (hg19) ; chr6:g.31270410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270410A>G , CM000668.2:g.31270410A>G	GRCh38
NC_000006.11:g.31238187A>G , CM000668.1:g.31238187A>G	GRCh37
NC_000006.10:g.31346166A>G	NCBI36
NG_029422.2:g.6722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.695T>C MANE Select	ENSP00000365402.5:p.Phe232Ser
ENST00000376228.9:c.695T>C	ENSP00000365402.5:p.Phe232Ser
ENST00000376237.8:c.*282T>C	ENSP00000365412.4:n.*282T>C
ENST00000383329.7:c.695T>C	ENSP00000372819.3:p.Phe232Ser
ENST00000415537.1:c.664+29T>C
ENST00000470363.5:n.13T>C
ENST00000487245.5:n.1054T>C
ENST00000495835.1:n.884T>C
NM_002117.5:c.695T>C	NP_002108.4:p.Phe232Ser
NM_002117.6:c.695T>C MANE Select	NP_002108.4:p.Phe232Ser