Canonical Allele Identifier: CA647594414
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

COSMIC: COSN15653298
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993234T>C , CM000665.2:g.36993234T>C GRCh38
NC_000003.11:g.37034725T>C , CM000665.1:g.37034725T>C GRCh37
NC_000003.10:g.37009729T>C NCBI36
NG_007109.2:g.4885T>C , LRG_216:g.4885T>C
NG_008418.1:g.5071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-314T>C (MLH1) ENSP00000500979.2:n.-314T>C
NM_014805.3:c.-157A>G (EPM2AIP1) NP_055620.1:n.-157A>G
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