Canonical Allele Identifier: CA377362070
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276486T>C , CM000672.2:g.80276486T>C GRCh38
NC_000010.10:g.82036242T>C , CM000672.1:g.82036242T>C GRCh37
NC_000010.9:g.82026222T>C NCBI36
NG_008083.1:g.18193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.658A>G MANE Select ENSP00000361287.3:p.Arg220Gly
ENST00000372213.7:c.658A>G ENSP00000361287.3:p.Arg220Gly
NM_000429.2:c.658A>G NP_000420.1:p.Arg220Gly
XM_005269842.3:c.658A>G XP_005269899.1:p.Arg220Gly
XM_005269843.3:c.535A>G XP_005269900.1:p.Arg179Gly
NM_000429.3:c.658A>G MANE Select NP_000420.1:p.Arg220Gly