Canonical Allele Identifier: CA363322264

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270405-G-A
• gnomAD v4: 6-31270405-G-A
• MyVariant Identifiers: chr6:g.31238182G>A (hg19) ; chr6:g.31270405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270405G>A , CM000668.2:g.31270405G>A	GRCh38
NC_000006.11:g.31238182G>A , CM000668.1:g.31238182G>A	GRCh37
NC_000006.10:g.31346161G>A	NCBI36
NG_029422.2:g.6727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.700C>T MANE Select	ENSP00000365402.5:p.Pro234Ser
ENST00000376228.9:c.700C>T	ENSP00000365402.5:p.Pro234Ser
ENST00000376237.8:c.*287C>T	ENSP00000365412.4:n.*287C>T
ENST00000383329.7:c.700C>T	ENSP00000372819.3:p.Pro234Ser
ENST00000415537.1:c.664+34C>T
ENST00000470363.5:n.18C>T
ENST00000487245.5:n.1059C>T
ENST00000495835.1:n.889C>T
NM_002117.5:c.700C>T	NP_002108.4:p.Pro234Ser
NM_002117.6:c.700C>T MANE Select	NP_002108.4:p.Pro234Ser