Canonical Allele Identifier: CA377362662
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280210C>G , CM000672.2:g.80280210C>G GRCh38
NC_000010.10:g.82039966C>G , CM000672.1:g.82039966C>G GRCh37
NC_000010.9:g.82029946C>G NCBI36
NG_008083.1:g.14469G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.512G>C MANE Select ENSP00000361287.3:p.Gly171Ala
ENST00000372213.7:c.512G>C ENSP00000361287.3:p.Gly171Ala
ENST00000455001.1:c.323G>C ENSP00000414961.1:p.Gly108Ala
NM_000429.2:c.512G>C NP_000420.1:p.Gly171Ala
XM_005269842.3:c.512G>C XP_005269899.1:p.Gly171Ala
XM_005269843.3:c.389G>C XP_005269900.1:p.Gly130Ala
NM_000429.3:c.512G>C MANE Select NP_000420.1:p.Gly171Ala