Canonical Allele Identifier: CA658797585
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 526213
ClinVar RCV Id: RCV002060712 RCV001390236
dbSNP Id: rs1372180906
gnomAD v3: 11-2171856-C-T
gnomAD v4: 11-2171856-C-T
MyVariant Identifiers: chr11:g.2193086C>T (hg19) chr11:g.2171856C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171856C>T , CM000673.2:g.2171856C>T GRCh38
NC_000011.9:g.2193086C>T , CM000673.1:g.2193086C>T GRCh37
NC_000011.8:g.2149662C>T NCBI36
NG_008128.1:g.4950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-70G>A ENSP00000325951.3:n.-70G>A
XM_011520335.1:c.-70G>A XP_011518637.1:n.-70G>A
XM_011520335.2:c.-70G>A XP_011518637.1:n.-70G>A
Search 100 bp 5'
Search 100 bp 3'