Canonical Allele Identifier: CA2665005633
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993228-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993228G>A , CM000665.2:g.36993228G>A GRCh38
NC_000003.11:g.37034719G>A , CM000665.1:g.37034719G>A GRCh37
NC_000003.10:g.37009723G>A NCBI36
NG_007109.2:g.4879G>A , LRG_216:g.4879G>A
NG_008418.1:g.5077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-320G>A (MLH1) ENSP00000500979.2:n.-320G>A
NM_014805.3:c.-151C>T (EPM2AIP1) NP_055620.1:n.-151C>T
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