Canonical Allele Identifier: CA1948012424
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846274075
gnomAD v4: 11-2172024-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172024C>T , CM000673.2:g.2172024C>T GRCh38
NC_000011.9:g.2193254C>T , CM000673.1:g.2193254C>T GRCh37
NC_000011.8:g.2149830C>T NCBI36
NG_008128.1:g.4782G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-238G>A XP_011518637.1:n.-238G>A
XM_011520335.2:c.-238G>A XP_011518637.1:n.-238G>A
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