Canonical Allele Identifier: CA2611985044
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2172012-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172012C>G , CM000673.2:g.2172012C>G GRCh38
NC_000011.9:g.2193242C>G , CM000673.1:g.2193242C>G GRCh37
NC_000011.8:g.2149818C>G NCBI36
NG_008128.1:g.4794G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-226G>C XP_011518637.1:n.-226G>C
XM_011520335.2:c.-226G>C XP_011518637.1:n.-226G>C