Canonical Allele Identifier: CA2580069306
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790990
ClinVar RCV Id: RCV002459779

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993307A>T , CM000665.2:g.36993307A>T GRCh38
NC_000003.11:g.37034798A>T , CM000665.1:g.37034798A>T GRCh37
NC_000003.10:g.37009802A>T NCBI36
NG_007109.2:g.4958A>T , LRG_216:g.4958A>T
NG_008418.1:g.4998T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-241A>T ENSP00000500979.2:n.-241A>T