Canonical Allele Identifier: CA2580069314
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1787564
ClinVar RCV Id: RCV002425669
gnomAD v4: 3-36993329-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993329G>A , CM000665.2:g.36993329G>A GRCh38
NC_000003.11:g.37034820G>A , CM000665.1:g.37034820G>A GRCh37
NC_000003.10:g.37009824G>A NCBI36
NG_007109.2:g.4980G>A , LRG_216:g.4980G>A
NG_008418.1:g.4976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-219G>A ENSP00000500979.2:n.-219G>A
Search 100 bp 5'
Search 100 bp 3'