Canonical Allele Identifier: CA5818538
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 242255
dbSNP Id: rs11564716
gnomAD v2: 11-2188676-C-T
gnomAD v3: 11-2167446-C-T
gnomAD v4: 11-2167446-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167446C>T , CM000673.2:g.2167446C>T GRCh38
NC_000011.9:g.2188676C>T , CM000673.1:g.2188676C>T GRCh37
NC_000011.8:g.2145252C>T NCBI36
NG_008128.1:g.9360G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.684G>A MANE Select ENSP00000325951.4:p.Glu228=
ENST00000324155.8:c.*373G>A ENSP00000325831.3:n.*373G>A
ENST00000333684.9:c.684G>A ENSP00000328814.6:p.Glu228=
ENST00000352909.7:c.684G>A ENSP00000325951.3:p.Glu228=
ENST00000381168.7:c.*404G>A ENSP00000370560.3:n.*404G>A
ENST00000381175.5:c.765G>A ENSP00000370567.1:p.Glu255=
ENST00000381178.5:c.777G>A ENSP00000370571.1:p.Glu259=
ENST00000412076.1:c.124G>A
ENST00000416223.5:c.124G>A
ENST00000469226.1:n.813G>A
NM_000360.3:c.684G>A NP_000351.2:p.Glu228=
NM_199292.2:c.777G>A NP_954986.2:p.Glu259=
NM_199293.2:c.765G>A NP_954987.2:p.Glu255=
XM_011520335.1:c.696G>A XP_011518637.1:p.Glu232=
XM_011520335.2:c.696G>A XP_011518637.1:p.Glu232=
NM_000360.4:c.684G>A MANE Select NP_000351.2:p.Glu228=
NM_199292.3:c.777G>A NP_954986.2:p.Glu259=
NM_199293.3:c.765G>A NP_954987.2:p.Glu255=