Canonical Allele Identifier: CA470467288
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1162560522
gnomAD v3: 10-80274648-G-A
gnomAD v4: 10-80274648-G-A
MyVariant Identifiers: chr10:g.82034404G>A (hg19) chr10:g.80274648G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274648G>A , CM000672.2:g.80274648G>A GRCh38
NC_000010.10:g.82034404G>A , CM000672.1:g.82034404G>A GRCh37
NC_000010.9:g.82024384G>A NCBI36
NG_008083.1:g.20031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.957C>T MANE Select ENSP00000361287.3:p.Ser319=
ENST00000372213.7:c.957C>T ENSP00000361287.3:p.Ser319=
ENST00000480845.1:n.189C>T
ENST00000485270.5:n.469C>T
NM_000429.2:c.957C>T NP_000420.1:p.Ser319=
XM_005269842.3:c.957C>T XP_005269899.1:p.Ser319=
XM_005269843.3:c.834C>T XP_005269900.1:p.Ser278=
NM_000429.3:c.957C>T MANE Select NP_000420.1:p.Ser319=
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