Canonical Allele Identifier: CA2741110959
Gene: MAT1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275140del , CM000672.2:g.80275140del GRCh38
NC_000010.10:g.82034896del , CM000672.1:g.82034896del GRCh37
NC_000010.9:g.82024876del NCBI36
NG_008083.1:g.19539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.828del MANE Select ENSP00000361287.3:p.His277MetfsTer14
ENST00000372213.7:c.828del ENSP00000361287.3:p.His277MetfsTer14
ENST00000480845.1:n.60del
ENST00000485270.5:n.340del
NM_000429.2:c.828del NP_000420.1:p.His277MetfsTer14
XM_005269842.3:c.828del XP_005269899.1:p.His277MetfsTer14
XM_005269843.3:c.705del XP_005269900.1:p.His236MetfsTer14
NM_000429.3:c.828del MANE Select NP_000420.1:p.His277MetfsTer14
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