Canonical Allele Identifier: CA114837

Gene: MAT1A

Linked Data

• ClinVar Variation Id: 1203
• ClinVar RCV Id: RCV000001262
• dbSNP Id: rs118204002
• ExAC: 10:82045273 G / T
• gnomAD v2: 10-82045273-G-T
• gnomAD v3: 10-80285517-G-T
• gnomAD v4: 10-80285517-G-T
• MyVariant Identifiers: chr10:g.82045273G>T (hg19) ; chr10:g.80285517G>T (hg38)
• PubMed: PMID:4421454 ; PMID:7560086

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80285517G>T , CM000672.2:g.80285517G>T	GRCh38
NC_000010.10:g.82045273G>T , CM000672.1:g.82045273G>T	GRCh37
NC_000010.9:g.82035253G>T	NCBI36
NG_008083.1:g.9162C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372213.8:c.164C>A MANE Select	ENSP00000361287.3:p.Ala55Asp
ENST00000372213.7:c.164C>A	ENSP00000361287.3:p.Ala55Asp
ENST00000455001.1:c.98C>A	ENSP00000414961.1:p.Ala33Asp
NM_000429.2:c.164C>A	NP_000420.1:p.Ala55Asp
XM_005269842.3:c.164C>A	XP_005269899.1:p.Ala55Asp
XM_005269843.3:c.164C>A	XP_005269900.1:p.Ala55Asp
NM_000429.3:c.164C>A MANE Select	NP_000420.1:p.Ala55Asp