Canonical Allele Identifier: CA668884087
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1373820939

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273446del , CM000672.2:g.80273446del GRCh38
NC_000010.10:g.82033202del , CM000672.1:g.82033202del GRCh37
NC_000010.9:g.82023182del NCBI36
NG_008083.1:g.21233del

Transcript Alleles

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