Canonical Allele Identifier: CA5576683

Gene: MAT1A

Linked Data

• ClinVar Variation Id: 851162
• ClinVar RCV Id: RCV001055501
• dbSNP Id: rs781774786
• ExAC: 10:82034849 C / T
• gnomAD v2: 10-82034849-C-T
• gnomAD v3: 10-80275093-C-T
• gnomAD v4: 10-80275093-C-T
• MyVariant Identifiers: chr10:g.82034849C>T (hg19) ; chr10:g.82034849_82034862delinsTGGTCTACCTTGGT (hg19) ; chr10:g.80275093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275093C>T , CM000672.2:g.80275093C>T	GRCh38
NC_000010.10:g.82034849C>T , CM000672.1:g.82034849C>T	GRCh37
NC_000010.9:g.82024829C>T	NCBI36
NG_008083.1:g.19586G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.875G>A MANE Select	ENSP00000361287.3:p.Arg292His
ENST00000372213.7:c.875G>A	ENSP00000361287.3:p.Arg292His
ENST00000480845.1:n.107G>A
ENST00000485270.5:n.387G>A
NM_000429.2:c.875G>A	NP_000420.1:p.Arg292His
XM_005269842.3:c.875G>A	XP_005269899.1:p.Arg292His
XM_005269843.3:c.752G>A	XP_005269900.1:p.Arg251His
NM_000429.3:c.875G>A MANE Select	NP_000420.1:p.Arg292His