Canonical Allele Identifier: CA5576574

Gene: MAT1A

Linked Data

• dbSNP Id: rs376771993
• ExAC: 10:82033486 C / G
• gnomAD v2: 10-82033486-C-G
• gnomAD v3: 10-80273730-C-G
• gnomAD v4: 10-80273730-C-G
• MyVariant Identifiers: chr10:g.82033486C>G (hg19) ; chr10:g.80273730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273730C>G , CM000672.2:g.80273730C>G	GRCh38
NC_000010.10:g.82033486C>G , CM000672.1:g.82033486C>G	GRCh37
NC_000010.9:g.82023466C>G	NCBI36
NG_008083.1:g.20949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*51G>C MANE Select	ENSP00000361287.3:n.*51G>C
ENST00000372213.7:c.*51G>C	ENSP00000361287.3:n.*51G>C
ENST00000480845.1:n.471G>C
ENST00000485270.5:n.751G>C
NM_000429.2:c.*51G>C	NP_000420.1:n.*51G>C
XM_005269842.3:c.*51G>C	XP_005269899.1:n.*51G>C
XM_005269843.3:c.*51G>C	XP_005269900.1:n.*51G>C
NM_000429.3:c.*51G>C MANE Select	NP_000420.1:n.*51G>C