Canonical Allele Identifier: CA210326855
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs891462373
MyVariant Identifiers: chr10:g.82039960A>T (hg19) chr10:g.80280204A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280204A>T , CM000672.2:g.80280204A>T GRCh38
NC_000010.10:g.82039960A>T , CM000672.1:g.82039960A>T GRCh37
NC_000010.9:g.82029940A>T NCBI36
NG_008083.1:g.14475T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.518T>A MANE Select ENSP00000361287.3:p.Leu173His
ENST00000372213.7:c.518T>A ENSP00000361287.3:p.Leu173His
ENST00000455001.1:c.329T>A ENSP00000414961.1:p.Leu110His
NM_000429.2:c.518T>A NP_000420.1:p.Leu173His
XM_005269842.3:c.518T>A XP_005269899.1:p.Leu173His
XM_005269843.3:c.395T>A XP_005269900.1:p.Leu132His
NM_000429.3:c.518T>A MANE Select NP_000420.1:p.Leu173His
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