Canonical Allele Identifier: CA2580069279
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1728920
ClinVar RCV Id: RCV002324583
gnomAD v4: 3-36993228-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993228G>C , CM000665.2:g.36993228G>C GRCh38
NC_000003.11:g.37034719G>C , CM000665.1:g.37034719G>C GRCh37
NC_000003.10:g.37009723G>C NCBI36
NG_007109.2:g.4879G>C , LRG_216:g.4879G>C
NG_008418.1:g.5077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-320G>C (MLH1) ENSP00000500979.2:n.-320G>C
NM_014805.3:c.-151C>G (EPM2AIP1) NP_055620.1:n.-151C>G
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