Canonical Allele Identifier: CA72786155
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs747638491
gnomAD v4: 3-36993334-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993334C>T , CM000665.2:g.36993334C>T GRCh38
NC_000003.11:g.37034825C>T , CM000665.1:g.37034825C>T GRCh37
NC_000003.10:g.37009829C>T NCBI36
NG_007109.2:g.4985C>T , LRG_216:g.4985C>T
NG_008418.1:g.4971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-214C>T ENSP00000500979.2:n.-214C>T
ENST00000231790.6:c.-214C>T ENSP00000231790.2:n.-214C>T