Canonical Allele Identifier: CA2609913672
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275113-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275115del , CM000672.2:g.80275115del GRCh38
NC_000010.10:g.82034871del , CM000672.1:g.82034871del GRCh37
NC_000010.9:g.82024851del NCBI36
NG_008083.1:g.19565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.854del MANE Select ENSP00000361287.3:p.Lys285ArgfsTer6
ENST00000372213.7:c.854del ENSP00000361287.3:p.Lys285ArgfsTer6
ENST00000480845.1:n.86del
ENST00000485270.5:n.366del
NM_000429.2:c.854del NP_000420.1:p.Lys285ArgfsTer6
XM_005269842.3:c.854del XP_005269899.1:p.Lys285ArgfsTer6
XM_005269843.3:c.731del XP_005269900.1:p.Lys244ArgfsTer6
NM_000429.3:c.854del MANE Select NP_000420.1:p.Lys285ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'