Canonical Allele Identifier: CA5576773
Gene: MAT1A HGNC NCBI
COSMIC:
COSM4428935 (not active)
MyVariant.info:
GRCh38 chr10:g.80280193G>A
GRCh37 chr10:g.82039949G>A
Revel Score:
ENST00000372213 (MANE Select) 0.738
ENST00000372206 0.738
ENST00000455001 0.738
gnomAD v2:
10:82039949 G / A
gnomAD v3:
10:80280193 G / A
gnomAD v4:
chr10-80280193-G-A
Joint Max Group AF 0.00018076 (SAS)
Genomes Max Group AF 0.00003243 (AFR)
Exomes Max Group AF 0.00018204 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280193G>A , CM000672.2:g.80280193G>A GRCh38
NC_000010.10:g.82039949G>A , CM000672.1:g.82039949G>A GRCh37
NC_000010.9:g.82029929G>A NCBI36
NG_008083.1:g.14486C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.529C>T MANE Select ENSP00000361287.3:p.Arg177Trp
ENST00000372213.7:c.529C>T ENSP00000361287.3:p.Arg177Trp
ENST00000455001.1:c.340C>T ENSP00000414961.1:p.Arg114Trp
NM_000429.2:c.529C>T NP_000420.1:p.Arg177Trp
XM_005269842.3:c.529C>T XP_005269899.1:p.Arg177Trp
XM_005269843.3:c.406C>T XP_005269900.1:p.Arg136Trp
NM_000429.3:c.529C>T MANE Select NP_000420.1:p.Arg177Trp
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