Canonical Allele Identifier: CA674605315
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1296251458
gnomAD v3: 11-2172136-C-A
gnomAD v4: 11-2172136-C-A
MyVariant Identifiers: chr11:g.2193366C>A (hg19) chr11:g.2172136C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172136C>A , CM000673.2:g.2172136C>A GRCh38
NC_000011.9:g.2193366C>A , CM000673.1:g.2193366C>A GRCh37
NC_000011.8:g.2149942C>A NCBI36
NG_008128.1:g.4670G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-350G>T XP_011518637.1:n.-350G>T
XM_011520335.2:c.-350G>T XP_011518637.1:n.-350G>T
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