Canonical Allele Identifier: CA166780

Gene: MLH1 EPM2AIP1

Linked Data

• ClinVar Variation Id: 141917
• ClinVar RCV Id: RCV000130626
• dbSNP Id: rs587782110
• gnomAD v3: 3-36993245-C-T
• gnomAD v4: 3-36993245-C-T
• MyVariant Identifiers: chr3:g.37034736C>T (hg19) ; chr3:g.36993245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993245C>T , CM000665.2:g.36993245C>T	GRCh38
NC_000003.11:g.37034736C>T , CM000665.1:g.37034736C>T	GRCh37
NC_000003.10:g.37009740C>T	NCBI36
NG_007109.2:g.4896C>T , LRG_216:g.4896C>T
NG_008418.1:g.5060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-303C>T (MLH1)	ENSP00000500979.2:n.-303C>T
NM_014805.3:c.-168G>A (EPM2AIP1)	NP_055620.1:n.-168G>A