Canonical Allele Identifier: CA72786127

Gene: MLH1

Linked Data

• dbSNP Id: rs997238330
• gnomAD v3: 3-36993322-G-C
• gnomAD v4: 3-36993322-G-C
• MyVariant Identifiers: chr3:g.37034813G>C (hg19) ; chr3:g.36993322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993322G>C , CM000665.2:g.36993322G>C	GRCh38
NC_000003.11:g.37034813G>C , CM000665.1:g.37034813G>C	GRCh37
NC_000003.10:g.37009817G>C	NCBI36
NG_007109.2:g.4973G>C , LRG_216:g.4973G>C
NG_008418.1:g.4983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-226G>C	ENSP00000500979.2:n.-226G>C