Canonical Allele Identifier: CA210322928
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs780609622
gnomAD v2: 10-82035239-CT-C
gnomAD v3: 10-80275483-CT-C
gnomAD v4: 10-80275483-CT-C
MyVariant Identifiers: chr10:g.82035240del (hg19) chr10:g.80275484del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275484del , CM000672.2:g.80275484del GRCh38
NC_000010.10:g.82035240del , CM000672.1:g.82035240del GRCh37
NC_000010.9:g.82025220del NCBI36
NG_008083.1:g.19195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.769-285del MANE Select ENSP00000361287.3:n.769-285del
ENST00000372213.7:c.769-285del ENSP00000361287.3:n.769-285del
NM_000429.2:c.769-285del NP_000420.1:n.769-285del
XM_005269842.3:c.769-285del XP_005269899.1:n.769-285del
XM_005269843.3:c.646-285del XP_005269900.1:n.646-285del
NM_000429.3:c.769-285del MANE Select NP_000420.1:n.769-285del
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