Canonical Allele Identifier: CA2611985011
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2172001-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172001C>G , CM000673.2:g.2172001C>G GRCh38
NC_000011.9:g.2193231C>G , CM000673.1:g.2193231C>G GRCh37
NC_000011.8:g.2149807C>G NCBI36
NG_008128.1:g.4805G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-215G>C XP_011518637.1:n.-215G>C
XM_011520335.2:c.-215G>C XP_011518637.1:n.-215G>C
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