Canonical Allele Identifier: CA72786130
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820942
ClinVar RCV Id: RCV001014884
dbSNP Id: rs969594649
gnomAD v3: 3-36993325-G-A
gnomAD v4: 3-36993325-G-A
MyVariant Identifiers: chr3:g.37034816G>A (hg19) chr3:g.36993325G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993325G>A , CM000665.2:g.36993325G>A GRCh38
NC_000003.11:g.37034816G>A , CM000665.1:g.37034816G>A GRCh37
NC_000003.10:g.37009820G>A NCBI36
NG_007109.2:g.4976G>A , LRG_216:g.4976G>A
NG_008418.1:g.4980C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-223G>A ENSP00000500979.2:n.-223G>A
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