Canonical Allele Identifier: CA1948009801
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169865G= , CM000673.2:g.2169865G= GRCh38
NC_000011.9:g.2191095G= , CM000673.1:g.2191095G= GRCh37
NC_000011.8:g.2147671G= NCBI36
NG_008128.1:g.6941C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.97C= MANE Select ENSP00000325951.4:p.Arg33=
ENST00000324155.8:c.91-170C= ENSP00000325831.3:n.91-170C=
ENST00000333684.9:c.97C= ENSP00000328814.6:p.Arg33=
ENST00000352909.7:c.97C= ENSP00000325951.3:p.Arg33=
ENST00000381168.7:c.103-170C= ENSP00000370560.3:n.103-170C=
ENST00000381175.5:c.178C= ENSP00000370567.1:p.Arg60=
ENST00000381178.5:c.190C= ENSP00000370571.1:p.Arg64=
NM_000360.3:c.97C= NP_000351.2:p.Arg33=
NM_199292.2:c.190C= NP_954986.2:p.Arg64=
NM_199293.2:c.178C= NP_954987.2:p.Arg60=
XM_011520335.1:c.109C= XP_011518637.1:p.Arg37=
XM_011520335.2:c.109C= XP_011518637.1:p.Arg37=
NM_000360.4:c.97C= MANE Select NP_000351.2:p.Arg33=
NM_199292.3:c.190C= NP_954986.2:p.Arg64=
NM_199293.3:c.178C= NP_954987.2:p.Arg60=