Canonical Allele Identifier: CA1948006086
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167015G= , CM000673.2:g.2167015G= GRCh38
NC_000011.9:g.2188245G= , CM000673.1:g.2188245G= GRCh37
NC_000011.8:g.2144821G= NCBI36
NG_008128.1:g.9791C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.713C= MANE Select ENSP00000325951.4:p.Thr238=
ENST00000324155.8:c.*402C= ENSP00000325831.3:n.*402C=
ENST00000333684.9:c.695+420C= ENSP00000328814.6:n.695+420C=
ENST00000352909.7:c.713C= ENSP00000325951.3:p.Thr238=
ENST00000381168.7:c.*433C= ENSP00000370560.3:n.*433C=
ENST00000381175.5:c.794C= ENSP00000370567.1:p.Thr265=
ENST00000381178.5:c.806C= ENSP00000370571.1:p.Thr269=
ENST00000412076.1:c.135+420C=
ENST00000416223.5:c.136-247C=
ENST00000469226.1:n.842C=
ENST00000479437.5:n.262C=
NM_000360.3:c.713C= NP_000351.2:p.Thr238=
NM_199292.2:c.806C= NP_954986.2:p.Thr269=
NM_199293.2:c.794C= NP_954987.2:p.Thr265=
XM_011520335.1:c.725C= XP_011518637.1:p.Thr242=
XM_011520335.2:c.725C= XP_011518637.1:p.Thr242=
NM_000360.4:c.713C= MANE Select NP_000351.2:p.Thr238=
NM_199292.3:c.806C= NP_954986.2:p.Thr269=
NM_199293.3:c.794C= NP_954987.2:p.Thr265=