Canonical Allele Identifier: CA10578187
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231906
ClinVar RCV Id: RCV000218771
dbSNP Id: rs876659437
gnomAD v4: 3-36993330-T-C
MyVariant Identifiers: chr3:g.37034821T>C (hg19) chr3:g.36993330T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993330T>C , CM000665.2:g.36993330T>C GRCh38
NC_000003.11:g.37034821T>C , CM000665.1:g.37034821T>C GRCh37
NC_000003.10:g.37009825T>C NCBI36
NG_007109.2:g.4981T>C , LRG_216:g.4981T>C
NG_008418.1:g.4975A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-218T>C ENSP00000500979.2:n.-218T>C
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