Canonical Allele Identifier: CA2580069281
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1727361
ClinVar RCV Id: RCV002319876
gnomAD v4: 3-36993241-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993241T>A , CM000665.2:g.36993241T>A GRCh38
NC_000003.11:g.37034732T>A , CM000665.1:g.37034732T>A GRCh37
NC_000003.10:g.37009736T>A NCBI36
NG_007109.2:g.4892T>A , LRG_216:g.4892T>A
NG_008418.1:g.5064A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-307T>A (MLH1) ENSP00000500979.2:n.-307T>A
NM_014805.3:c.-164A>T (EPM2AIP1) NP_055620.1:n.-164A>T
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