Canonical Allele Identifier: CA2611985024
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2172005-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172005G>A , CM000673.2:g.2172005G>A GRCh38
NC_000011.9:g.2193235G>A , CM000673.1:g.2193235G>A GRCh37
NC_000011.8:g.2149811G>A NCBI36
NG_008128.1:g.4801C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-219C>T XP_011518637.1:n.-219C>T
XM_011520335.2:c.-219C>T XP_011518637.1:n.-219C>T