Canonical Allele Identifier: CA915942385
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821581
ClinVar RCV Id: RCV001016122
dbSNP Id: rs587782685
gnomAD v4: 3-36993287-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993287G>T , CM000665.2:g.36993287G>T GRCh38
NC_000003.11:g.37034778G>T , CM000665.1:g.37034778G>T GRCh37
NC_000003.10:g.37009782G>T NCBI36
NG_007109.2:g.4938G>T , LRG_216:g.4938G>T
NG_008418.1:g.5018C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-261G>T (MLH1) ENSP00000500979.2:n.-261G>T
NM_014805.3:c.-210C>A (EPM2AIP1) NP_055620.1:n.-210C>A
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