Canonical Allele Identifier: CA1922573478
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275141_80275142delinsGC , CM000672.2:g.80275141_80275142delinsGC GRCh38
NC_000010.10:g.82034897_82034898delinsGC , CM000672.1:g.82034897_82034898delinsGC GRCh37
NC_000010.9:g.82024877_82024878delinsGC NCBI36
NG_008083.1:g.19537_19538delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.826_827delinsGC MANE Select ENSP00000361287.3:p.Ala276=
ENST00000372213.7:c.826_827delinsGC ENSP00000361287.3:p.Ala276=
ENST00000480845.1:n.58_59delinsGC
ENST00000485270.5:n.338_339delinsGC
NM_000429.2:c.826_827delinsGC NP_000420.1:p.Ala276=
XM_005269842.3:c.826_827delinsGC XP_005269899.1:p.Ala276=
XM_005269843.3:c.703_704delinsGC XP_005269900.1:p.Ala235=
NM_000429.3:c.826_827delinsGC MANE Select NP_000420.1:p.Ala276=