Canonical Allele Identifier: CA10578189

Gene: MLH1

Linked Data

• ClinVar Variation Id: 232963
• ClinVar RCV Id: RCV000221448
• dbSNP Id: rs786202911
• MyVariant Identifiers: chr3:g.37034834G>C (hg19) ; chr3:g.36993343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993343G>C , CM000665.2:g.36993343G>C	GRCh38
NC_000003.11:g.37034834G>C , CM000665.1:g.37034834G>C	GRCh37
NC_000003.10:g.37009838G>C	NCBI36
NG_007109.2:g.4994G>C , LRG_216:g.4994G>C
NG_008418.1:g.4962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-205G>C	ENSP00000500979.2:n.-205G>C
ENST00000231790.6:c.-205G>C	ENSP00000231790.2:n.-205G>C