Canonical Allele Identifier: CA2609913183
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275357-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275357C>A , CM000672.2:g.80275357C>A GRCh38
NC_000010.10:g.82035113C>A , CM000672.1:g.82035113C>A GRCh37
NC_000010.9:g.82025093C>A NCBI36
NG_008083.1:g.19322G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.769-158G>T MANE Select ENSP00000361287.3:n.769-158G>T
ENST00000372213.7:c.769-158G>T ENSP00000361287.3:n.769-158G>T
ENST00000485270.5:n.123G>T
NM_000429.2:c.769-158G>T NP_000420.1:n.769-158G>T
XM_005269842.3:c.769-158G>T XP_005269899.1:n.769-158G>T
XM_005269843.3:c.646-158G>T XP_005269900.1:n.646-158G>T
NM_000429.3:c.769-158G>T MANE Select NP_000420.1:n.769-158G>T
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