Canonical Allele Identifier: CA377361568
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276386C>T , CM000672.2:g.80276386C>T GRCh38
NC_000010.10:g.82036142C>T , CM000672.1:g.82036142C>T GRCh37
NC_000010.9:g.82026122C>T NCBI36
NG_008083.1:g.18293G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.758G>A MANE Select ENSP00000361287.3:p.Gly253Glu
ENST00000372213.7:c.758G>A ENSP00000361287.3:p.Gly253Glu
NM_000429.2:c.758G>A NP_000420.1:p.Gly253Glu
XM_005269842.3:c.758G>A XP_005269899.1:p.Gly253Glu
XM_005269843.3:c.635G>A XP_005269900.1:p.Gly212Glu
NM_000429.3:c.758G>A MANE Select NP_000420.1:p.Gly253Glu