Canonical Allele Identifier: CA906755379
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1236650655
gnomAD v3: 3-36993319-G-T
gnomAD v4: 3-36993319-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993319G>T , CM000665.2:g.36993319G>T GRCh38
NC_000003.11:g.37034810G>T , CM000665.1:g.37034810G>T GRCh37
NC_000003.10:g.37009814G>T NCBI36
NG_007109.2:g.4970G>T , LRG_216:g.4970G>T
NG_008418.1:g.4986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-229G>T ENSP00000500979.2:n.-229G>T