Canonical Allele Identifier: CA1948012207
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846270075
gnomAD v4: 11-2171846-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171846G>C , CM000673.2:g.2171846G>C GRCh38
NC_000011.9:g.2193076G>C , CM000673.1:g.2193076G>C GRCh37
NC_000011.8:g.2149652G>C NCBI36
NG_008128.1:g.4960C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-60C>G ENSP00000325951.3:n.-60C>G
XM_011520335.1:c.-60C>G XP_011518637.1:n.-60C>G
XM_011520335.2:c.-60C>G XP_011518637.1:n.-60C>G
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