Canonical Allele Identifier: CA2580069317
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1787065
ClinVar RCV Id: RCV002432715
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993332G>A , CM000665.2:g.36993332G>A GRCh38
NC_000003.11:g.37034823G>A , CM000665.1:g.37034823G>A GRCh37
NC_000003.10:g.37009827G>A NCBI36
NG_007109.2:g.4983G>A , LRG_216:g.4983G>A
NG_008418.1:g.4973C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-216G>A ENSP00000500979.2:n.-216G>A
ENST00000231790.6:c.-216G>A ENSP00000231790.2:n.-216G>A
Search 100 bp 5'
Search 100 bp 3'