Canonical Allele Identifier: CA13514699
Gene: TH HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2172610A>G
GRCh37 chr11:g.2193840A>G
gnomAD v2:
11:2193840 A / G
gnomAD v3:
11:2172610 A / G
gnomAD v4:
chr11-2172610-A-G
Joint Max Group AF 0.90054023 (EAS)
Genomes Max Group AF 0.90054023 (EAS)
ClinVar RCV:
RCV001509891
RCV003633586
ClinVar Variation:
1164244
dbSNP:
10770141
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172610A>G , CM000673.2:g.2172610A>G GRCh38
NC_000011.9:g.2193840A>G , CM000673.1:g.2193840A>G GRCh37
NC_000011.8:g.2150416A>G NCBI36
NG_008128.1:g.4196T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-824T>C XP_011518637.1:n.-824T>C
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