Canonical Allele Identifier: CA2665005678
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993260-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993260A>C , CM000665.2:g.36993260A>C GRCh38
NC_000003.11:g.37034751A>C , CM000665.1:g.37034751A>C GRCh37
NC_000003.10:g.37009755A>C NCBI36
NG_007109.2:g.4911A>C , LRG_216:g.4911A>C
NG_008418.1:g.5045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-288A>C (MLH1) ENSP00000500979.2:n.-288A>C
NM_014805.3:c.-183T>G (EPM2AIP1) NP_055620.1:n.-183T>G