Canonical Allele Identifier: CA5818908
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs540831913
ExAC: 11:2193041 C / T
gnomAD v2: 11-2193041-C-T
gnomAD v3: 11-2171811-C-T
gnomAD v4: 11-2171811-C-T
MyVariant Identifiers: chr11:g.2193041C>T (hg19) chr11:g.2171811C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171811C>T , CM000673.2:g.2171811C>T GRCh38
NC_000011.9:g.2193041C>T , CM000673.1:g.2193041C>T GRCh37
NC_000011.8:g.2149617C>T NCBI36
NG_008128.1:g.4995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.-25G>A MANE Select ENSP00000325951.4:n.-25G>A
ENST00000352909.7:c.-25G>A ENSP00000325951.3:n.-25G>A
XM_011520335.1:c.-25G>A XP_011518637.1:n.-25G>A
XM_011520335.2:c.-25G>A XP_011518637.1:n.-25G>A
NM_000360.4:c.-25G>A MANE Select NP_000351.2:n.-25G>A
NM_199292.3:c.-25G>A NP_954986.2:n.-25G>A
NM_199293.3:c.-25G>A NP_954987.2:n.-25G>A
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