Canonical Allele Identifier: CA915942399
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820728
ClinVar RCV Id: RCV001014464
dbSNP Id: rs876659402
gnomAD v4: 3-36993338-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993338T>A , CM000665.2:g.36993338T>A GRCh38
NC_000003.11:g.37034829T>A , CM000665.1:g.37034829T>A GRCh37
NC_000003.10:g.37009833T>A NCBI36
NG_007109.2:g.4989T>A , LRG_216:g.4989T>A
NG_008418.1:g.4967A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-210T>A ENSP00000500979.2:n.-210T>A
ENST00000231790.6:c.-210T>A ENSP00000231790.2:n.-210T>A
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