Canonical Allele Identifier: CA1948012346
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1590173932
gnomAD v4: 11-2171950-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171950A>G , CM000673.2:g.2171950A>G GRCh38
NC_000011.9:g.2193180A>G , CM000673.1:g.2193180A>G GRCh37
NC_000011.8:g.2149756A>G NCBI36
NG_008128.1:g.4856T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-164T>C XP_011518637.1:n.-164T>C
XM_011520335.2:c.-164T>C XP_011518637.1:n.-164T>C
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