Canonical Allele Identifier: CA1357864566
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1575372774
gnomAD v4: 3-36993239-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993239C>G , CM000665.2:g.36993239C>G GRCh38
NC_000003.11:g.37034730C>G , CM000665.1:g.37034730C>G GRCh37
NC_000003.10:g.37009734C>G NCBI36
NG_007109.2:g.4890C>G , LRG_216:g.4890C>G
NG_008418.1:g.5066G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-309C>G (MLH1) ENSP00000500979.2:n.-309C>G
NM_014805.3:c.-162G>C (EPM2AIP1) NP_055620.1:n.-162G>C
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