Canonical Allele Identifier: CA2665005704
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993297-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993297G>A , CM000665.2:g.36993297G>A GRCh38
NC_000003.11:g.37034788G>A , CM000665.1:g.37034788G>A GRCh37
NC_000003.10:g.37009792G>A NCBI36
NG_007109.2:g.4948G>A , LRG_216:g.4948G>A
NG_008418.1:g.5008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-251G>A (MLH1) ENSP00000500979.2:n.-251G>A
NM_014805.3:c.-220C>T (EPM2AIP1) NP_055620.1:n.-220C>T