Canonical Allele Identifier: CA2611984960
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171994-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171994T>G , CM000673.2:g.2171994T>G GRCh38
NC_000011.9:g.2193224T>G , CM000673.1:g.2193224T>G GRCh37
NC_000011.8:g.2149800T>G NCBI36
NG_008128.1:g.4812A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-208A>C XP_011518637.1:n.-208A>C
XM_011520335.2:c.-208A>C XP_011518637.1:n.-208A>C