Canonical Allele Identifier: CA1357864578
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993256T= , CM000665.2:g.36993256T= GRCh38
NC_000003.11:g.37034747T= , CM000665.1:g.37034747T= GRCh37
NC_000003.10:g.37009751T= NCBI36
NG_007109.2:g.4907T= , LRG_216:g.4907T=
NG_008418.1:g.5049A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-292T= (MLH1) ENSP00000500979.2:n.-292T=
NM_014805.3:c.-179A= (EPM2AIP1) NP_055620.1:n.-179A=