Canonical Allele Identifier: CA216230588
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs993117231
MyVariant Identifiers: chr11:g.2193369C>T (hg19) chr11:g.2172139C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172139C>T , CM000673.2:g.2172139C>T GRCh38
NC_000011.9:g.2193369C>T , CM000673.1:g.2193369C>T GRCh37
NC_000011.8:g.2149945C>T NCBI36
NG_008128.1:g.4667G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-353G>A XP_011518637.1:n.-353G>A
Search 100 bp 5'
Search 100 bp 3'