Canonical Allele Identifier: CA2665005702
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993292-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993292C>G , CM000665.2:g.36993292C>G GRCh38
NC_000003.11:g.37034783C>G , CM000665.1:g.37034783C>G GRCh37
NC_000003.10:g.37009787C>G NCBI36
NG_007109.2:g.4943C>G , LRG_216:g.4943C>G
NG_008418.1:g.5013G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-256C>G (MLH1) ENSP00000500979.2:n.-256C>G
NM_014805.3:c.-215G>C (EPM2AIP1) NP_055620.1:n.-215G>C