Canonical Allele Identifier: CA377360169
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1841443636

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273854T>A , CM000672.2:g.80273854T>A GRCh38
NC_000010.10:g.82033610T>A , CM000672.1:g.82033610T>A GRCh37
NC_000010.9:g.82023590T>A NCBI36
NG_008083.1:g.20825A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.1115A>T MANE Select ENSP00000361287.3:p.Gln372Leu
ENST00000372213.7:c.1115A>T ENSP00000361287.3:p.Gln372Leu
ENST00000480845.1:n.347A>T
ENST00000485270.5:n.627A>T
NM_000429.2:c.1115A>T NP_000420.1:p.Gln372Leu
XM_005269842.3:c.1115A>T XP_005269899.1:p.Gln372Leu
XM_005269843.3:c.992A>T XP_005269900.1:p.Gln331Leu
NM_000429.3:c.1115A>T MANE Select NP_000420.1:p.Gln372Leu