Canonical Allele Identifier: CA2611984688
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs2133704638
gnomAD v4: 11-2171911-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171911C>T , CM000673.2:g.2171911C>T GRCh38
NC_000011.9:g.2193141C>T , CM000673.1:g.2193141C>T GRCh37
NC_000011.8:g.2149717C>T NCBI36
NG_008128.1:g.4895G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-125G>A XP_011518637.1:n.-125G>A
XM_011520335.2:c.-125G>A XP_011518637.1:n.-125G>A
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