Canonical Allele Identifier: CA2665005656
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993247-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993247C>G , CM000665.2:g.36993247C>G GRCh38
NC_000003.11:g.37034738C>G , CM000665.1:g.37034738C>G GRCh37
NC_000003.10:g.37009742C>G NCBI36
NG_007109.2:g.4898C>G , LRG_216:g.4898C>G
NG_008418.1:g.5058G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-301C>G (MLH1) ENSP00000500979.2:n.-301C>G
NM_014805.3:c.-170G>C (EPM2AIP1) NP_055620.1:n.-170G>C
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