Canonical Allele Identifier: CA216230636
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs937102743
gnomAD v3: 11-2172184-G-A
gnomAD v4: 11-2172184-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172184G>A , CM000673.2:g.2172184G>A GRCh38
NC_000011.9:g.2193414G>A , CM000673.1:g.2193414G>A GRCh37
NC_000011.8:g.2149990G>A NCBI36
NG_008128.1:g.4622C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-398C>T XP_011518637.1:n.-398C>T