Canonical Allele Identifier: CA216230311
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs538850290
gnomAD v3: 11-2171891-C-G
gnomAD v4: 11-2171891-C-G
MyVariant Identifiers: chr11:g.2193121C>G (hg19) chr11:g.2171891C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171891C>G , CM000673.2:g.2171891C>G GRCh38
NC_000011.9:g.2193121C>G , CM000673.1:g.2193121C>G GRCh37
NC_000011.8:g.2149697C>G NCBI36
NG_008128.1:g.4915G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-105G>C XP_011518637.1:n.-105G>C
XM_011520335.2:c.-105G>C XP_011518637.1:n.-105G>C
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