Canonical Allele Identifier: CA72786121
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs568340864
gnomAD v3: 3-36993309-A-G
gnomAD v4: 3-36993309-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993309A>G , CM000665.2:g.36993309A>G GRCh38
NC_000003.11:g.37034800A>G , CM000665.1:g.37034800A>G GRCh37
NC_000003.10:g.37009804A>G NCBI36
NG_007109.2:g.4960A>G , LRG_216:g.4960A>G
NG_008418.1:g.4996T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-239A>G ENSP00000500979.2:n.-239A>G