Canonical Allele Identifier: CA363321886

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270359-G-C
• gnomAD v4: 6-31270359-G-C
• MyVariant Identifiers: chr6:g.31238136G>C (hg19) ; chr6:g.31270359G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270359G>C , CM000668.2:g.31270359G>C	GRCh38
NC_000006.11:g.31238136G>C , CM000668.1:g.31238136G>C	GRCh37
NC_000006.10:g.31346115G>C	NCBI36
NG_029422.2:g.6773C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.746C>G MANE Select	ENSP00000365402.5:p.Thr249Ser
ENST00000376228.9:c.746C>G	ENSP00000365402.5:p.Thr249Ser
ENST00000376237.8:c.*333C>G	ENSP00000365412.4:n.*333C>G
ENST00000383329.7:c.746C>G	ENSP00000372819.3:p.Thr249Ser
ENST00000415537.1:c.665-28C>G
ENST00000470363.5:n.64C>G
ENST00000487245.5:n.1105C>G
ENST00000495835.1:n.935C>G
NM_002117.5:c.746C>G	NP_002108.4:p.Thr249Ser
NM_002117.6:c.746C>G MANE Select	NP_002108.4:p.Thr249Ser