Canonical Allele Identifier: CA72786037

Gene: MLH1 EPM2AIP1

Linked Data

• dbSNP Id: rs1051028590
• gnomAD v4: 3-36993256-T-A
• MyVariant Identifiers: chr3:g.37034747T>A (hg19) ; chr3:g.36993256T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993256T>A , CM000665.2:g.36993256T>A	GRCh38
NC_000003.11:g.37034747T>A , CM000665.1:g.37034747T>A	GRCh37
NC_000003.10:g.37009751T>A	NCBI36
NG_007109.2:g.4907T>A , LRG_216:g.4907T>A
NG_008418.1:g.5049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-292T>A (MLH1)	ENSP00000500979.2:n.-292T>A
NM_014805.3:c.-179A>T (EPM2AIP1)	NP_055620.1:n.-179A>T