Canonical Allele Identifier: CA2590508526
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs2133705078
gnomAD v3: 11-2172066-G-A
gnomAD v4: 11-2172066-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172066G>A , CM000673.2:g.2172066G>A GRCh38
NC_000011.9:g.2193296G>A , CM000673.1:g.2193296G>A GRCh37
NC_000011.8:g.2149872G>A NCBI36
NG_008128.1:g.4740C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-280C>T XP_011518637.1:n.-280C>T
XM_011520335.2:c.-280C>T XP_011518637.1:n.-280C>T
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