Canonical Allele Identifier: CA906755395
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1430228880
gnomAD v3: 3-36993324-G-A
gnomAD v4: 3-36993324-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993324G>A , CM000665.2:g.36993324G>A GRCh38
NC_000003.11:g.37034815G>A , CM000665.1:g.37034815G>A GRCh37
NC_000003.10:g.37009819G>A NCBI36
NG_007109.2:g.4975G>A , LRG_216:g.4975G>A
NG_008418.1:g.4981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-224G>A ENSP00000500979.2:n.-224G>A