Canonical Allele Identifier: CA216230625
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs549860654
gnomAD v3: 11-2172173-C-T
gnomAD v4: 11-2172173-C-T
MyVariant Identifiers: chr11:g.2193403C>T (hg19) chr11:g.2172173C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172173C>T , CM000673.2:g.2172173C>T GRCh38
NC_000011.9:g.2193403C>T , CM000673.1:g.2193403C>T GRCh37
NC_000011.8:g.2149979C>T NCBI36
NG_008128.1:g.4633G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-387G>A XP_011518637.1:n.-387G>A
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