Canonical Allele Identifier: CA216230451
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs758260523
gnomAD v2: 11-2193269-C-T
gnomAD v3: 11-2172039-C-T
gnomAD v4: 11-2172039-C-T
MyVariant Identifiers: chr11:g.2193269C>T (hg19) chr11:g.2172039C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172039C>T , CM000673.2:g.2172039C>T GRCh38
NC_000011.9:g.2193269C>T , CM000673.1:g.2193269C>T GRCh37
NC_000011.8:g.2149845C>T NCBI36
NG_008128.1:g.4767G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-253G>A XP_011518637.1:n.-253G>A
XM_011520335.2:c.-253G>A XP_011518637.1:n.-253G>A
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