Canonical Allele Identifier: CA1357864606
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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