Canonical Allele Identifier: CA2665005705
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993299-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993299G>A , CM000665.2:g.36993299G>A GRCh38
NC_000003.11:g.37034790G>A , CM000665.1:g.37034790G>A GRCh37
NC_000003.10:g.37009794G>A NCBI36
NG_007109.2:g.4950G>A , LRG_216:g.4950G>A
NG_008418.1:g.5006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-249G>A (MLH1) ENSP00000500979.2:n.-249G>A
NM_014805.3:c.-222C>T (EPM2AIP1) NP_055620.1:n.-222C>T