Canonical Allele Identifier: CA2611984657
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171902-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171902C>T , CM000673.2:g.2171902C>T GRCh38
NC_000011.9:g.2193132C>T , CM000673.1:g.2193132C>T GRCh37
NC_000011.8:g.2149708C>T NCBI36
NG_008128.1:g.4904G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-116G>A XP_011518637.1:n.-116G>A
XM_011520335.2:c.-116G>A XP_011518637.1:n.-116G>A