Canonical Allele Identifier: CA2580069322
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785359
ClinVar RCV Id: RCV002422108
gnomAD v4: 3-36993342-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993342G>T , CM000665.2:g.36993342G>T GRCh38
NC_000003.11:g.37034833G>T , CM000665.1:g.37034833G>T GRCh37
NC_000003.10:g.37009837G>T NCBI36
NG_007109.2:g.4993G>T , LRG_216:g.4993G>T
NG_008418.1:g.4963C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-206G>T ENSP00000500979.2:n.-206G>T
ENST00000231790.6:c.-206G>T ENSP00000231790.2:n.-206G>T
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