Canonical Allele Identifier: CA72786114
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821390
ClinVar RCV Id: RCV001015759
dbSNP Id: rs1019716048
gnomAD v3: 3-36993299-G-C
gnomAD v4: 3-36993299-G-C
MyVariant Identifiers: chr3:g.37034790G>C (hg19) chr3:g.36993299G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993299G>C , CM000665.2:g.36993299G>C GRCh38
NC_000003.11:g.37034790G>C , CM000665.1:g.37034790G>C GRCh37
NC_000003.10:g.37009794G>C NCBI36
NG_007109.2:g.4950G>C , LRG_216:g.4950G>C
NG_008418.1:g.5006C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-249G>C (MLH1) ENSP00000500979.2:n.-249G>C
NM_014805.3:c.-222C>G (EPM2AIP1) NP_055620.1:n.-222C>G
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