Canonical Allele Identifier: CA377360766
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1496491
ClinVar RCV Id: RCV001991904
dbSNP Id: rs1320353405
MyVariant Identifiers: chr10:g.82034885C>G (hg19) chr10:g.80275129C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275129C>G , CM000672.2:g.80275129C>G GRCh38
NC_000010.10:g.82034885C>G , CM000672.1:g.82034885C>G GRCh37
NC_000010.9:g.82024865C>G NCBI36
NG_008083.1:g.19550G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.839G>C MANE Select ENSP00000361287.3:p.Gly280Ala
ENST00000372213.7:c.839G>C ENSP00000361287.3:p.Gly280Ala
ENST00000480845.1:n.71G>C
ENST00000485270.5:n.351G>C
NM_000429.2:c.839G>C NP_000420.1:p.Gly280Ala
XM_005269842.3:c.839G>C XP_005269899.1:p.Gly280Ala
XM_005269843.3:c.716G>C XP_005269900.1:p.Gly239Ala
NM_000429.3:c.839G>C MANE Select NP_000420.1:p.Gly280Ala
Search 100 bp 5'
Search 100 bp 3'