Canonical Allele Identifier: CA5576882
Gene: MAT1A HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.80285517G>A
GRCh37 chr10:g.82045273G>A
Revel Score:
ENST00000372213 (MANE Select) 0.898
ENST00000372206 0.898
ENST00000455001 0.898
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.164C>T MANE Select ENSP00000361287.3:p.Ala55Val
ENST00000372213.7:c.164C>T ENSP00000361287.3:p.Ala55Val
ENST00000455001.1:c.98C>T ENSP00000414961.1:p.Ala33Val
NM_000429.2:c.164C>T NP_000420.1:p.Ala55Val
XM_005269842.3:c.164C>T XP_005269899.1:p.Ala55Val
XM_005269843.3:c.164C>T XP_005269900.1:p.Ala55Val
NM_000429.3:c.164C>T MANE Select NP_000420.1:p.Ala55Val
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