Canonical Allele Identifier: CA13370133
Gene: TH HGNC NCBI
COSMIC:
COSN6608610 (not active)
COSN16914739 (not active)
MyVariant.info:
GRCh38 chr11:g.2172367C>T
GRCh37 chr11:g.2193597C>T
gnomAD v2:
11:2193597 C / T
gnomAD v3:
11:2172367 C / T
gnomAD v4:
chr11-2172367-C-T
Joint Max Group AF 0.8894933 (EAS)
Genomes Max Group AF 0.8894933 (EAS)
ClinVar RCV:
RCV001518392
ClinVar Variation:
1168271
dbSNP:
10770140
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172367C>T , CM000673.2:g.2172367C>T GRCh38
NC_000011.9:g.2193597C>T , CM000673.1:g.2193597C>T GRCh37
NC_000011.8:g.2150173C>T NCBI36
NG_008128.1:g.4439G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-581G>A XP_011518637.1:n.-581G>A
Search 100 bp 5'
Search 100 bp 3'