Canonical Allele Identifier: CA5818912
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs746432210
ExAC: 11:2193061 A / C
gnomAD v2: 11-2193061-A-C
gnomAD v4: 11-2171831-A-C
MyVariant Identifiers: chr11:g.2193061A>C (hg19) chr11:g.2171831A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171831A>C , CM000673.2:g.2171831A>C GRCh38
NC_000011.9:g.2193061A>C , CM000673.1:g.2193061A>C GRCh37
NC_000011.8:g.2149637A>C NCBI36
NG_008128.1:g.4975T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-45T>G ENSP00000325951.3:n.-45T>G
XM_011520335.1:c.-45T>G XP_011518637.1:n.-45T>G
XM_011520335.2:c.-45T>G XP_011518637.1:n.-45T>G
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