Canonical Allele Identifier: CA216230298
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs571808044
gnomAD v2: 11-2193112-C-G
gnomAD v3: 11-2171882-C-G
gnomAD v4: 11-2171882-C-G
MyVariant Identifiers: chr11:g.2193112C>G (hg19) chr11:g.2171882C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171882C>G , CM000673.2:g.2171882C>G GRCh38
NC_000011.9:g.2193112C>G , CM000673.1:g.2193112C>G GRCh37
NC_000011.8:g.2149688C>G NCBI36
NG_008128.1:g.4924G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-96G>C XP_011518637.1:n.-96G>C
XM_011520335.2:c.-96G>C XP_011518637.1:n.-96G>C
Search 100 bp 5'
Search 100 bp 3'