Canonical Allele Identifier: CA674605246
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1312008633
gnomAD v3: 11-2172047-AG-A
gnomAD v4: 11-2172047-AG-A
MyVariant Identifiers: chr11:g.2193278del (hg19) chr11:g.2172048del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172051del , CM000673.2:g.2172051del GRCh38
NC_000011.9:g.2193281del , CM000673.1:g.2193281del GRCh37
NC_000011.8:g.2149857del NCBI36
NG_008128.1:g.4758del

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-262del XP_011518637.1:n.-262del
XM_011520335.2:c.-262del XP_011518637.1:n.-262del
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