Canonical Allele Identifier: CA167062
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141996
ClinVar RCV Id: RCV000130761
dbSNP Id: rs587782167
gnomAD v2: 3-37034760-A-G
gnomAD v3: 3-36993269-A-G
gnomAD v4: 3-36993269-A-G
MyVariant Identifiers: chr3:g.37034760A>G (hg19) chr3:g.36993269A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993269A>G , CM000665.2:g.36993269A>G GRCh38
NC_000003.11:g.37034760A>G , CM000665.1:g.37034760A>G GRCh37
NC_000003.10:g.37009764A>G NCBI36
NG_007109.2:g.4920A>G , LRG_216:g.4920A>G
NG_008418.1:g.5036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-279A>G (MLH1) ENSP00000500979.2:n.-279A>G
NM_014805.3:c.-192T>C (EPM2AIP1) NP_055620.1:n.-192T>C
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