Canonical Allele Identifier: CA915942386
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821549
ClinVar RCV Id: RCV001016061
dbSNP Id: rs1575373090
gnomAD v4: 3-36993289-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993289T>C , CM000665.2:g.36993289T>C GRCh38
NC_000003.11:g.37034780T>C , CM000665.1:g.37034780T>C GRCh37
NC_000003.10:g.37009784T>C NCBI36
NG_007109.2:g.4940T>C , LRG_216:g.4940T>C
NG_008418.1:g.5016A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-259T>C (MLH1) ENSP00000500979.2:n.-259T>C
NM_014805.3:c.-212A>G (EPM2AIP1) NP_055620.1:n.-212A>G
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