Canonical Allele Identifier: CA377362819
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280282T>G , CM000672.2:g.80280282T>G GRCh38
NC_000010.10:g.82040038T>G , CM000672.1:g.82040038T>G GRCh37
NC_000010.9:g.82030018T>G NCBI36
NG_008083.1:g.14397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.440A>C MANE Select ENSP00000361287.3:p.Glu147Ala
ENST00000372213.7:c.440A>C ENSP00000361287.3:p.Glu147Ala
ENST00000455001.1:c.251A>C ENSP00000414961.1:p.Glu84Ala
NM_000429.2:c.440A>C NP_000420.1:p.Glu147Ala
XM_005269842.3:c.440A>C XP_005269899.1:p.Glu147Ala
XM_005269843.3:c.317A>C XP_005269900.1:p.Glu106Ala
NM_000429.3:c.440A>C MANE Select NP_000420.1:p.Glu147Ala