Canonical Allele Identifier: CA2665005703
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993293-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993293T>G , CM000665.2:g.36993293T>G GRCh38
NC_000003.11:g.37034784T>G , CM000665.1:g.37034784T>G GRCh37
NC_000003.10:g.37009788T>G NCBI36
NG_007109.2:g.4944T>G , LRG_216:g.4944T>G
NG_008418.1:g.5012A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-255T>G (MLH1) ENSP00000500979.2:n.-255T>G
NM_014805.3:c.-216A>C (EPM2AIP1) NP_055620.1:n.-216A>C