Canonical Allele Identifier: CA2611984391
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171845-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171845A>G , CM000673.2:g.2171845A>G GRCh38
NC_000011.9:g.2193075A>G , CM000673.1:g.2193075A>G GRCh37
NC_000011.8:g.2149651A>G NCBI36
NG_008128.1:g.4961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-59T>C ENSP00000325951.3:n.-59T>C
XM_011520335.1:c.-59T>C XP_011518637.1:n.-59T>C
XM_011520335.2:c.-59T>C XP_011518637.1:n.-59T>C
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