Canonical Allele Identifier: CA470467479
Gene: MAT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.82036219G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276463G>T , CM000672.2:g.80276463G>T GRCh38
NC_000010.10:g.82036219G>T , CM000672.1:g.82036219G>T GRCh37
NC_000010.9:g.82026199G>T NCBI36
NG_008083.1:g.18216C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.681C>A MANE Select ENSP00000361287.3:p.Ile227=
ENST00000372213.7:c.681C>A ENSP00000361287.3:p.Ile227=
NM_000429.2:c.681C>A NP_000420.1:p.Ile227=
XM_005269842.3:c.681C>A XP_005269899.1:p.Ile227=
XM_005269843.3:c.558C>A XP_005269900.1:p.Ile186=
NM_000429.3:c.681C>A MANE Select NP_000420.1:p.Ile227=