Canonical Allele Identifier: CA542613735
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1192744509
gnomAD v2: 3-37034802-C-T
gnomAD v3: 3-36993311-C-T
gnomAD v4: 3-36993311-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993311C>T , CM000665.2:g.36993311C>T GRCh38
NC_000003.11:g.37034802C>T , CM000665.1:g.37034802C>T GRCh37
NC_000003.10:g.37009806C>T NCBI36
NG_007109.2:g.4962C>T , LRG_216:g.4962C>T
NG_008418.1:g.4994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-237C>T ENSP00000500979.2:n.-237C>T