Canonical Allele Identifier: CA1922576736
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273445_80273446delinsGA , CM000672.2:g.80273445_80273446delinsGA GRCh38
NC_000010.10:g.82033201_82033202delinsGA , CM000672.1:g.82033201_82033202delinsGA GRCh37
NC_000010.9:g.82023181_82023182delinsGA NCBI36
NG_008083.1:g.21233_21234delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*335_*336delinsTC MANE Select ENSP00000361287.3:n.*335_*336delinsTC
ENST00000372213.7:c.*335_*336delinsTC ENSP00000361287.3:n.*335_*336delinsTC
ENST00000480845.1:n.620+135_620+136delinsTC
ENST00000485270.5:n.1035_1036delinsTC
NM_000429.2:c.*335_*336delinsTC NP_000420.1:n.*335_*336delinsTC
XM_005269842.3:c.*335_*336delinsTC XP_005269899.1:n.*335_*336delinsTC
XM_005269843.3:c.*335_*336delinsTC XP_005269900.1:n.*335_*336delinsTC
NM_000429.3:c.*335_*336delinsTC MANE Select NP_000420.1:n.*335_*336delinsTC