Canonical Allele Identifier: CA114838
Gene: MAT1A HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.80274535G>A
GRCh37 chr10:g.82034291G>A
Revel Score:
ENST00000372213 (MANE Select) 0.952
ENST00000372206 0.952
gnomAD v2:
10:82034291 G / A
gnomAD v3:
10:80274535 G / A
gnomAD v4:
chr10-80274535-G-A
Joint Max Group AF 0.00005798 (MID)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00006092 (MID)
ClinVar RCV:
RCV000001263
RCV000413402
ClinVar Variation:
1204
dbSNP:
118204003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274535G>A , CM000672.2:g.80274535G>A GRCh38
NC_000010.10:g.82034291G>A , CM000672.1:g.82034291G>A GRCh37
NC_000010.9:g.82024271G>A NCBI36
NG_008083.1:g.20144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1070C>T MANE Select ENSP00000361287.3:p.Pro357Leu
ENST00000372213.7:c.1070C>T ENSP00000361287.3:p.Pro357Leu
ENST00000480845.1:n.302C>T
ENST00000485270.5:n.582C>T
NM_000429.2:c.1070C>T NP_000420.1:p.Pro357Leu
XM_005269842.3:c.1070C>T XP_005269899.1:p.Pro357Leu
XM_005269843.3:c.947C>T XP_005269900.1:p.Pro316Leu
NM_000429.3:c.1070C>T MANE Select NP_000420.1:p.Pro357Leu
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