Canonical Allele Identifier: CA2665005709
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993303-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993303G>T , CM000665.2:g.36993303G>T GRCh38
NC_000003.11:g.37034794G>T , CM000665.1:g.37034794G>T GRCh37
NC_000003.10:g.37009798G>T NCBI36
NG_007109.2:g.4954G>T , LRG_216:g.4954G>T
NG_008418.1:g.5002C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-245G>T (MLH1) ENSP00000500979.2:n.-245G>T
NM_014805.3:c.-226C>A (EPM2AIP1) NP_055620.1:n.-226C>A