Canonical Allele Identifier: CA377362646
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280201G>T , CM000672.2:g.80280201G>T GRCh38
NC_000010.10:g.82039957G>T , CM000672.1:g.82039957G>T GRCh37
NC_000010.9:g.82029937G>T NCBI36
NG_008083.1:g.14478C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.521C>A MANE Select ENSP00000361287.3:p.Pro174His
ENST00000372213.7:c.521C>A ENSP00000361287.3:p.Pro174His
ENST00000455001.1:c.332C>A ENSP00000414961.1:p.Pro111His
NM_000429.2:c.521C>A NP_000420.1:p.Pro174His
XM_005269842.3:c.521C>A XP_005269899.1:p.Pro174His
XM_005269843.3:c.398C>A XP_005269900.1:p.Pro133His
NM_000429.3:c.521C>A MANE Select NP_000420.1:p.Pro174His