Canonical Allele Identifier: CA5576591
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 772426
ClinVar RCV Id: RCV000951981 RCV003943042
dbSNP Id: rs368336046
ExAC: 10:82033585 G / A
gnomAD v2: 10-82033585-G-A
gnomAD v3: 10-80273829-G-A
gnomAD v4: 10-80273829-G-A
COSMIC: COSM3383054
MyVariant Identifiers: chr10:g.82033585G>A (hg19) chr10:g.80273829G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273829G>A , CM000672.2:g.80273829G>A GRCh38
NC_000010.10:g.82033585G>A , CM000672.1:g.82033585G>A GRCh37
NC_000010.9:g.82023565G>A NCBI36
NG_008083.1:g.20850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1140C>T MANE Select ENSP00000361287.3:p.Phe380=
ENST00000372213.7:c.1140C>T ENSP00000361287.3:p.Phe380=
ENST00000480845.1:n.372C>T
ENST00000485270.5:n.652C>T
NM_000429.2:c.1140C>T NP_000420.1:p.Phe380=
XM_005269842.3:c.1140C>T XP_005269899.1:p.Phe380=
XM_005269843.3:c.1017C>T XP_005269900.1:p.Phe339=
NM_000429.3:c.1140C>T MANE Select NP_000420.1:p.Phe380=
Search 100 bp 5'
Search 100 bp 3'