Canonical Allele Identifier: CA2611985072
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2172020-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172020T>G , CM000673.2:g.2172020T>G GRCh38
NC_000011.9:g.2193250T>G , CM000673.1:g.2193250T>G GRCh37
NC_000011.8:g.2149826T>G NCBI36
NG_008128.1:g.4786A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-234A>C XP_011518637.1:n.-234A>C
XM_011520335.2:c.-234A>C XP_011518637.1:n.-234A>C
Search 100 bp 5'
Search 100 bp 3'