Canonical Allele Identifier: CA2609913674
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275131-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275133del , CM000672.2:g.80275133del GRCh38
NC_000010.10:g.82034889del , CM000672.1:g.82034889del GRCh37
NC_000010.9:g.82024869del NCBI36
NG_008083.1:g.19547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.836del MANE Select ENSP00000361287.3:p.Gly279ValfsTer12
ENST00000372213.7:c.836del ENSP00000361287.3:p.Gly279ValfsTer12
ENST00000480845.1:n.68del
ENST00000485270.5:n.348del
NM_000429.2:c.836del NP_000420.1:p.Gly279ValfsTer12
XM_005269842.3:c.836del XP_005269899.1:p.Gly279ValfsTer12
XM_005269843.3:c.713del XP_005269900.1:p.Gly238ValfsTer12
NM_000429.3:c.836del MANE Select NP_000420.1:p.Gly279ValfsTer12
Search 100 bp 5'
Search 100 bp 3'