Canonical Allele Identifier: CA1046889098
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2080859455
gnomAD v3: 3-36993271-A-C
gnomAD v4: 3-36993271-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993271A>C , CM000665.2:g.36993271A>C GRCh38
NC_000003.11:g.37034762A>C , CM000665.1:g.37034762A>C GRCh37
NC_000003.10:g.37009766A>C NCBI36
NG_007109.2:g.4922A>C , LRG_216:g.4922A>C
NG_008418.1:g.5034T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-277A>C (MLH1) ENSP00000500979.2:n.-277A>C
NM_014805.3:c.-194T>G (EPM2AIP1) NP_055620.1:n.-194T>G
Search 100 bp 5'
Search 100 bp 3'