Canonical Allele Identifier: CA1357864574
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1575372838
gnomAD v4: 3-36993249-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993249G>C , CM000665.2:g.36993249G>C GRCh38
NC_000003.11:g.37034740G>C , CM000665.1:g.37034740G>C GRCh37
NC_000003.10:g.37009744G>C NCBI36
NG_007109.2:g.4900G>C , LRG_216:g.4900G>C
NG_008418.1:g.5056C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-299G>C (MLH1) ENSP00000500979.2:n.-299G>C
NM_014805.3:c.-172C>G (EPM2AIP1) NP_055620.1:n.-172C>G
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