Canonical Allele Identifier: CA1948012215
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846270188
gnomAD v4: 11-2171848-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171848T>A , CM000673.2:g.2171848T>A GRCh38
NC_000011.9:g.2193078T>A , CM000673.1:g.2193078T>A GRCh37
NC_000011.8:g.2149654T>A NCBI36
NG_008128.1:g.4958A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-62A>T ENSP00000325951.3:n.-62A>T
XM_011520335.1:c.-62A>T XP_011518637.1:n.-62A>T
XM_011520335.2:c.-62A>T XP_011518637.1:n.-62A>T