Canonical Allele Identifier: CA1922577153
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273791A= , CM000672.2:g.80273791A= GRCh38
NC_000010.10:g.82033547A= , CM000672.1:g.82033547A= GRCh37
NC_000010.9:g.82023527A= NCBI36
NG_008083.1:g.20888T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1178T= MANE Select ENSP00000361287.3:p.Leu393=
ENST00000372213.7:c.1178T= ENSP00000361287.3:p.Leu393=
ENST00000480845.1:n.410T=
ENST00000485270.5:n.690T=
NM_000429.2:c.1178T= NP_000420.1:p.Leu393=
XM_005269842.3:c.1178T= XP_005269899.1:p.Leu393=
XM_005269843.3:c.1055T= XP_005269900.1:p.Leu352=
NM_000429.3:c.1178T= MANE Select NP_000420.1:p.Leu393=