Canonical Allele Identifier: CA10578185
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 232066
ClinVar RCV Id: RCV000220413
dbSNP Id: rs876659532
gnomAD v3: 3-36993263-G-T
gnomAD v4: 3-36993263-G-T
MyVariant Identifiers: chr3:g.37034754G>T (hg19) chr3:g.36993263G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993263G>T , CM000665.2:g.36993263G>T GRCh38
NC_000003.11:g.37034754G>T , CM000665.1:g.37034754G>T GRCh37
NC_000003.10:g.37009758G>T NCBI36
NG_007109.2:g.4914G>T , LRG_216:g.4914G>T
NG_008418.1:g.5042C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-285G>T (MLH1) ENSP00000500979.2:n.-285G>T
NM_014805.3:c.-186C>A (EPM2AIP1) NP_055620.1:n.-186C>A
Search 100 bp 5'
Search 100 bp 3'