Canonical Allele Identifier: CA165360
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141417
ClinVar RCV Id: RCV000129924
dbSNP Id: rs587781731
gnomAD v3: 3-36993297-G-T
gnomAD v4: 3-36993297-G-T
MyVariant Identifiers: chr3:g.37034788G>T (hg19) chr3:g.36993297G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993297G>T , CM000665.2:g.36993297G>T GRCh38
NC_000003.11:g.37034788G>T , CM000665.1:g.37034788G>T GRCh37
NC_000003.10:g.37009792G>T NCBI36
NG_007109.2:g.4948G>T , LRG_216:g.4948G>T
NG_008418.1:g.5008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-251G>T (MLH1) ENSP00000500979.2:n.-251G>T
NM_014805.3:c.-220C>A (EPM2AIP1) NP_055620.1:n.-220C>A
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