Canonical Allele Identifier: CA114837
Gene: MAT1A HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.80285517G>T
GRCh37 chr10:g.82045273G>T
Revel Score:
ENST00000372213 (MANE Select) 0.923
ENST00000372206 0.923
ENST00000455001 0.923
gnomAD v2:
10:82045273 G / T
gnomAD v3:
10:80285517 G / T
gnomAD v4:
chr10-80285517-G-T
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000001262
ClinVar Variation:
1203
dbSNP:
118204002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80285517G>T , CM000672.2:g.80285517G>T GRCh38
NC_000010.10:g.82045273G>T , CM000672.1:g.82045273G>T GRCh37
NC_000010.9:g.82035253G>T NCBI36
NG_008083.1:g.9162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.164C>A MANE Select ENSP00000361287.3:p.Ala55Asp
ENST00000372213.7:c.164C>A ENSP00000361287.3:p.Ala55Asp
ENST00000455001.1:c.98C>A ENSP00000414961.1:p.Ala33Asp
NM_000429.2:c.164C>A NP_000420.1:p.Ala55Asp
XM_005269842.3:c.164C>A XP_005269899.1:p.Ala55Asp
XM_005269843.3:c.164C>A XP_005269900.1:p.Ala55Asp
NM_000429.3:c.164C>A MANE Select NP_000420.1:p.Ala55Asp
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