Canonical Allele Identifier: CA216230537
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1020241836
gnomAD v3: 11-2172081-A-G
gnomAD v4: 11-2172081-A-G
MyVariant Identifiers: chr11:g.2193311A>G (hg19) chr11:g.2172081A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172081A>G , CM000673.2:g.2172081A>G GRCh38
NC_000011.9:g.2193311A>G , CM000673.1:g.2193311A>G GRCh37
NC_000011.8:g.2149887A>G NCBI36
NG_008128.1:g.4725T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-295T>C XP_011518637.1:n.-295T>C
XM_011520335.2:c.-295T>C XP_011518637.1:n.-295T>C
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