Canonical Allele Identifier: CA2611984545
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171868-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171868C>A , CM000673.2:g.2171868C>A GRCh38
NC_000011.9:g.2193098C>A , CM000673.1:g.2193098C>A GRCh37
NC_000011.8:g.2149674C>A NCBI36
NG_008128.1:g.4938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-82G>T ENSP00000325951.3:n.-82G>T
XM_011520335.1:c.-82G>T XP_011518637.1:n.-82G>T
XM_011520335.2:c.-82G>T XP_011518637.1:n.-82G>T