Canonical Allele Identifier: CA72786106
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821415
ClinVar RCV Id: RCV001015805
dbSNP Id: rs1000607663
gnomAD v4: 3-36993295-A-C
MyVariant Identifiers: chr3:g.37034786A>C (hg19) chr3:g.36993295A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993295A>C , CM000665.2:g.36993295A>C GRCh38
NC_000003.11:g.37034786A>C , CM000665.1:g.37034786A>C GRCh37
NC_000003.10:g.37009790A>C NCBI36
NG_007109.2:g.4946A>C , LRG_216:g.4946A>C
NG_008418.1:g.5010T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-253A>C (MLH1) ENSP00000500979.2:n.-253A>C
NM_014805.3:c.-218T>G (EPM2AIP1) NP_055620.1:n.-218T>G
Search 100 bp 5'
Search 100 bp 3'