Canonical Allele Identifier: CA934420983
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846272606
gnomAD v3: 11-2171948-G-A
gnomAD v4: 11-2171948-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171948G>A , CM000673.2:g.2171948G>A GRCh38
NC_000011.9:g.2193178G>A , CM000673.1:g.2193178G>A GRCh37
NC_000011.8:g.2149754G>A NCBI36
NG_008128.1:g.4858C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-162C>T XP_011518637.1:n.-162C>T
XM_011520335.2:c.-162C>T XP_011518637.1:n.-162C>T