Canonical Allele Identifier: CA166104

Gene: MLH1 EPM2AIP1

Linked Data

• ClinVar Variation Id: 141675
• ClinVar RCV Id: RCV000130287
• dbSNP Id: rs587781929
• gnomAD v4: 3-36993260-A-G
• MyVariant Identifiers: chr3:g.37034751A>G (hg19) ; chr3:g.36993260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993260A>G , CM000665.2:g.36993260A>G	GRCh38
NC_000003.11:g.37034751A>G , CM000665.1:g.37034751A>G	GRCh37
NC_000003.10:g.37009755A>G	NCBI36
NG_007109.2:g.4911A>G , LRG_216:g.4911A>G
NG_008418.1:g.5045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-288A>G (MLH1)	ENSP00000500979.2:n.-288A>G
NM_014805.3:c.-183T>C (EPM2AIP1)	NP_055620.1:n.-183T>C