Canonical Allele Identifier: CA377360546
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275019G>C , CM000672.2:g.80275019G>C GRCh38
NC_000010.10:g.82034775G>C , CM000672.1:g.82034775G>C GRCh37
NC_000010.9:g.82024755G>C NCBI36
NG_008083.1:g.19660C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.949C>G MANE Select ENSP00000361287.3:p.Gln317Glu
ENST00000372213.7:c.949C>G ENSP00000361287.3:p.Gln317Glu
ENST00000480845.1:n.181C>G
ENST00000485270.5:n.461C>G
NM_000429.2:c.949C>G NP_000420.1:p.Gln317Glu
XM_005269842.3:c.949C>G XP_005269899.1:p.Gln317Glu
XM_005269843.3:c.826C>G XP_005269900.1:p.Gln276Glu
NM_000429.3:c.949C>G MANE Select NP_000420.1:p.Gln317Glu