Canonical Allele Identifier: CA210320581
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1021299615
gnomAD v3: 10-80273707-GC-G
gnomAD v4: 10-80273707-GC-G
MyVariant Identifiers: chr10:g.82033464del (hg19) chr10:g.80273708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273709del , CM000672.2:g.80273709del GRCh38
NC_000010.10:g.82033465del , CM000672.1:g.82033465del GRCh37
NC_000010.9:g.82023445del NCBI36
NG_008083.1:g.20971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*73del MANE Select ENSP00000361287.3:n.*73del
ENST00000372213.7:c.*73del ENSP00000361287.3:n.*73del
ENST00000480845.1:n.493del
ENST00000485270.5:n.773del
NM_000429.2:c.*73del NP_000420.1:n.*73del
XM_005269842.3:c.*73del XP_005269899.1:n.*73del
XM_005269843.3:c.*73del XP_005269900.1:n.*73del
NM_000429.3:c.*73del MANE Select NP_000420.1:n.*73del
Search 100 bp 5'
Search 100 bp 3'