Canonical Allele Identifier: CA2609912724
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273769-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273769C>G , CM000672.2:g.80273769C>G GRCh38
NC_000010.10:g.82033525C>G , CM000672.1:g.82033525C>G GRCh37
NC_000010.9:g.82023505C>G NCBI36
NG_008083.1:g.20910G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*12G>C MANE Select ENSP00000361287.3:n.*12G>C
ENST00000372213.7:c.*12G>C ENSP00000361287.3:n.*12G>C
ENST00000480845.1:n.432G>C
ENST00000485270.5:n.712G>C
NM_000429.2:c.*12G>C NP_000420.1:n.*12G>C
XM_005269842.3:c.*12G>C XP_005269899.1:n.*12G>C
XM_005269843.3:c.*12G>C XP_005269900.1:n.*12G>C
NM_000429.3:c.*12G>C MANE Select NP_000420.1:n.*12G>C
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