Canonical Allele Identifier: CA2611984621
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171892-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171892C>T , CM000673.2:g.2171892C>T GRCh38
NC_000011.9:g.2193122C>T , CM000673.1:g.2193122C>T GRCh37
NC_000011.8:g.2149698C>T NCBI36
NG_008128.1:g.4914G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-106G>A XP_011518637.1:n.-106G>A
XM_011520335.2:c.-106G>A XP_011518637.1:n.-106G>A