Canonical Allele Identifier: CA906755335

Gene: MLH1 EPM2AIP1

Linked Data

• ClinVar Variation Id: 821755
• ClinVar RCV Id: RCV001016485
• dbSNP Id: rs1164676006
• gnomAD v3: 3-36993274-A-C
• gnomAD v4: 3-36993274-A-C
• MyVariant Identifiers: chr3:g.37034765A>C (hg19) ; chr3:g.36993274A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993274A>C , CM000665.2:g.36993274A>C	GRCh38
NC_000003.11:g.37034765A>C , CM000665.1:g.37034765A>C	GRCh37
NC_000003.10:g.37009769A>C	NCBI36
NG_007109.2:g.4925A>C , LRG_216:g.4925A>C
NG_008418.1:g.5031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-274A>C (MLH1)	ENSP00000500979.2:n.-274A>C
NM_014805.3:c.-197T>G (EPM2AIP1)	NP_055620.1:n.-197T>G