Canonical Allele Identifier: CA377360088
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs773105969

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273819C>A , CM000672.2:g.80273819C>A GRCh38
NC_000010.10:g.82033575C>A , CM000672.1:g.82033575C>A GRCh37
NC_000010.9:g.82023555C>A NCBI36
NG_008083.1:g.20860G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1150G>T MANE Select ENSP00000361287.3:p.Glu384Ter
ENST00000372213.7:c.1150G>T ENSP00000361287.3:p.Glu384Ter
ENST00000480845.1:n.382G>T
ENST00000485270.5:n.662G>T
NM_000429.2:c.1150G>T NP_000420.1:p.Glu384Ter
XM_005269842.3:c.1150G>T XP_005269899.1:p.Glu384Ter
XM_005269843.3:c.1027G>T XP_005269900.1:p.Glu343Ter
NM_000429.3:c.1150G>T MANE Select NP_000420.1:p.Glu384Ter