Canonical Allele Identifier: CA2609912391
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273426-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273428del , CM000672.2:g.80273428del GRCh38
NC_000010.10:g.82033184del , CM000672.1:g.82033184del GRCh37
NC_000010.9:g.82023164del NCBI36
NG_008083.1:g.21252del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*354del MANE Select ENSP00000361287.3:n.*354del
ENST00000372213.7:c.*354del ENSP00000361287.3:n.*354del
ENST00000480845.1:n.620+154del
ENST00000485270.5:n.1054del
NM_000429.2:c.*354del NP_000420.1:n.*354del
XM_005269842.3:c.*354del XP_005269899.1:n.*354del
XM_005269843.3:c.*354del XP_005269900.1:n.*354del
NM_000429.3:c.*354del MANE Select NP_000420.1:n.*354del
Search 100 bp 5'
Search 100 bp 3'