Canonical Allele Identifier: CA2665005639

Gene: MLH1 EPM2AIP1

Linked Data

• gnomAD v4: 3-36993229-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993229C>T , CM000665.2:g.36993229C>T	GRCh38
NC_000003.11:g.37034720C>T , CM000665.1:g.37034720C>T	GRCh37
NC_000003.10:g.37009724C>T	NCBI36
NG_007109.2:g.4880C>T , LRG_216:g.4880C>T
NG_008418.1:g.5076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-319C>T (MLH1)	ENSP00000500979.2:n.-319C>T
NM_014805.3:c.-152G>A (EPM2AIP1)	NP_055620.1:n.-152G>A