Canonical Allele Identifier: CA1357864575
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993254C= , CM000665.2:g.36993254C= GRCh38
NC_000003.11:g.37034745C= , CM000665.1:g.37034745C= GRCh37
NC_000003.10:g.37009749C= NCBI36
NG_007109.2:g.4905C= , LRG_216:g.4905C=
NG_008418.1:g.5051G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-294C= (MLH1) ENSP00000500979.2:n.-294C=
NM_014805.3:c.-177G= (EPM2AIP1) NP_055620.1:n.-177G=