Canonical Allele Identifier: CA934421035
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846277899
gnomAD v3: 11-2172151-C-G
gnomAD v4: 11-2172151-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172151C>G , CM000673.2:g.2172151C>G GRCh38
NC_000011.9:g.2193381C>G , CM000673.1:g.2193381C>G GRCh37
NC_000011.8:g.2149957C>G NCBI36
NG_008128.1:g.4655G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-365G>C XP_011518637.1:n.-365G>C