Canonical Allele Identifier: CA5576791
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061909
ClinVar RCV Id: RCV002953035
dbSNP Id: rs369884238
ExAC: 10:82040061 G / A
gnomAD v2: 10-82040061-G-A
gnomAD v3: 10-80280305-G-A
gnomAD v4: 10-80280305-G-A
COSMIC: COSM920796
MyVariant Identifiers: chr10:g.82040061G>A (hg19) chr10:g.80280305G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280305G>A , CM000672.2:g.80280305G>A GRCh38
NC_000010.10:g.82040061G>A , CM000672.1:g.82040061G>A GRCh37
NC_000010.9:g.82030041G>A NCBI36
NG_008083.1:g.14374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.417C>T MANE Select ENSP00000361287.3:p.Phe139=
ENST00000372213.7:c.417C>T ENSP00000361287.3:p.Phe139=
ENST00000455001.1:c.228C>T ENSP00000414961.1:p.Phe76=
NM_000429.2:c.417C>T NP_000420.1:p.Phe139=
XM_005269842.3:c.417C>T XP_005269899.1:p.Phe139=
XM_005269843.3:c.294C>T XP_005269900.1:p.Phe98=
NM_000429.3:c.417C>T MANE Select NP_000420.1:p.Phe139=
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