Canonical Allele Identifier: CA2665005684
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993267-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993267C>A , CM000665.2:g.36993267C>A GRCh38
NC_000003.11:g.37034758C>A , CM000665.1:g.37034758C>A GRCh37
NC_000003.10:g.37009762C>A NCBI36
NG_007109.2:g.4918C>A , LRG_216:g.4918C>A
NG_008418.1:g.5038G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-281C>A (MLH1) ENSP00000500979.2:n.-281C>A
NM_014805.3:c.-190G>T (EPM2AIP1) NP_055620.1:n.-190G>T