Canonical Allele Identifier: CA192576
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185671
ClinVar RCV Id: RCV000165130
dbSNP Id: rs786202361
gnomAD v3: 3-36993304-C-T
gnomAD v4: 3-36993304-C-T
MyVariant Identifiers: chr3:g.37034795C>T (hg19) chr3:g.36993304C>T (hg38)
PubMed: PMID:24487276
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993304C>T , CM000665.2:g.36993304C>T GRCh38
NC_000003.11:g.37034795C>T , CM000665.1:g.37034795C>T GRCh37
NC_000003.10:g.37009799C>T NCBI36
NG_007109.2:g.4955C>T , LRG_216:g.4955C>T
NG_008418.1:g.5001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-244C>T (MLH1) ENSP00000500979.2:n.-244C>T
NM_014805.3:c.-227G>A (EPM2AIP1) NP_055620.1:n.-227G>A
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