Canonical Allele Identifier: CA165623

Gene: MLH1 EPM2AIP1

Linked Data

• ClinVar Variation Id: 141497
• ClinVar RCV Id: RCV000130054
• dbSNP Id: rs549943873
• gnomAD v2: 3-37034787-C-A
• gnomAD v3: 3-36993296-C-A
• gnomAD v4: 3-36993296-C-A
• MyVariant Identifiers: chr3:g.37034787C>A (hg19) ; chr3:g.36993296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993296C>A , CM000665.2:g.36993296C>A	GRCh38
NC_000003.11:g.37034787C>A , CM000665.1:g.37034787C>A	GRCh37
NC_000003.10:g.37009791C>A	NCBI36
NG_007109.2:g.4947C>A , LRG_216:g.4947C>A
NG_008418.1:g.5009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-252C>A (MLH1)	ENSP00000500979.2:n.-252C>A
NM_014805.3:c.-219G>T (EPM2AIP1)	NP_055620.1:n.-219G>T