Canonical Allele Identifier: CA470467325
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2091470
ClinVar RCV Id: RCV003007974
MyVariant Identifiers: chr10:g.82034806C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275050C>G , CM000672.2:g.80275050C>G GRCh38
NC_000010.10:g.82034806C>G , CM000672.1:g.82034806C>G GRCh37
NC_000010.9:g.82024786C>G NCBI36
NG_008083.1:g.19629G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.918G>C MANE Select ENSP00000361287.3:p.Val306=
ENST00000372213.7:c.918G>C ENSP00000361287.3:p.Val306=
ENST00000480845.1:n.150G>C
ENST00000485270.5:n.430G>C
NM_000429.2:c.918G>C NP_000420.1:p.Val306=
XM_005269842.3:c.918G>C XP_005269899.1:p.Val306=
XM_005269843.3:c.795G>C XP_005269900.1:p.Val265=
NM_000429.3:c.918G>C MANE Select NP_000420.1:p.Val306=
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