Canonical Allele Identifier: CA1948005571
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166783G= , CM000673.2:g.2166783G= GRCh38
NC_000011.9:g.2188013G= , CM000673.1:g.2188013G= GRCh37
NC_000011.8:g.2144589G= NCBI36
NG_008128.1:g.10023C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.842-15C= MANE Select ENSP00000325951.4:n.842-15C=
ENST00000324155.8:c.*531-15C= ENSP00000325831.3:n.*531-15C=
ENST00000333684.9:c.696-234C= ENSP00000328814.6:n.696-234C=
ENST00000352909.7:c.842-15C= ENSP00000325951.3:n.842-15C=
ENST00000381168.7:c.*562-15C= ENSP00000370560.3:n.*562-15C=
ENST00000381175.5:c.923-15C= ENSP00000370567.1:n.923-15C=
ENST00000381178.5:c.935-15C= ENSP00000370571.1:n.935-15C=
ENST00000412076.1:c.136-234C=
ENST00000416223.5:c.136-15C=
ENST00000479437.5:n.391-15C=
NM_000360.3:c.842-15C= NP_000351.2:n.842-15C=
NM_199292.2:c.935-15C= NP_954986.2:n.935-15C=
NM_199293.2:c.923-15C= NP_954987.2:n.923-15C=
XM_011520335.1:c.854-15C= XP_011518637.1:n.854-15C=
XM_011520335.2:c.854-15C= XP_011518637.1:n.854-15C=
NM_000360.4:c.842-15C= MANE Select NP_000351.2:n.842-15C=
NM_199292.3:c.935-15C= NP_954986.2:n.935-15C=
NM_199293.3:c.923-15C= NP_954987.2:n.923-15C=