Canonical Allele Identifier: CA216230484
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs570215312
gnomAD v2: 11-2193285-G-A
gnomAD v3: 11-2172055-G-A
gnomAD v4: 11-2172055-G-A
MyVariant Identifiers: chr11:g.2193285G>A (hg19) chr11:g.2172055G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172055G>A , CM000673.2:g.2172055G>A GRCh38
NC_000011.9:g.2193285G>A , CM000673.1:g.2193285G>A GRCh37
NC_000011.8:g.2149861G>A NCBI36
NG_008128.1:g.4751C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-269C>T XP_011518637.1:n.-269C>T
XM_011520335.2:c.-269C>T XP_011518637.1:n.-269C>T
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