Canonical Allele Identifier: CA934420985
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846272659
gnomAD v3: 11-2171949-G-A
gnomAD v4: 11-2171949-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171949G>A , CM000673.2:g.2171949G>A GRCh38
NC_000011.9:g.2193179G>A , CM000673.1:g.2193179G>A GRCh37
NC_000011.8:g.2149755G>A NCBI36
NG_008128.1:g.4857C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-163C>T XP_011518637.1:n.-163C>T
XM_011520335.2:c.-163C>T XP_011518637.1:n.-163C>T