Canonical Allele Identifier: CA2609913242
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275379-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275379G>A , CM000672.2:g.80275379G>A GRCh38
NC_000010.10:g.82035135G>A , CM000672.1:g.82035135G>A GRCh37
NC_000010.9:g.82025115G>A NCBI36
NG_008083.1:g.19300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.769-180C>T MANE Select ENSP00000361287.3:n.769-180C>T
ENST00000372213.7:c.769-180C>T ENSP00000361287.3:n.769-180C>T
ENST00000485270.5:n.101C>T
NM_000429.2:c.769-180C>T NP_000420.1:n.769-180C>T
XM_005269842.3:c.769-180C>T XP_005269899.1:n.769-180C>T
XM_005269843.3:c.646-180C>T XP_005269900.1:n.646-180C>T
NM_000429.3:c.769-180C>T MANE Select NP_000420.1:n.769-180C>T
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