Canonical Allele Identifier: CA1948005550
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166774A= , CM000673.2:g.2166774A= GRCh38
NC_000011.9:g.2188004A= , CM000673.1:g.2188004A= GRCh37
NC_000011.8:g.2144580A= NCBI36
NG_008128.1:g.10032T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.842-6T= MANE Select ENSP00000325951.4:n.842-6T=
ENST00000324155.8:c.*531-6T= ENSP00000325831.3:n.*531-6T=
ENST00000333684.9:c.696-225T= ENSP00000328814.6:n.696-225T=
ENST00000352909.7:c.842-6T= ENSP00000325951.3:n.842-6T=
ENST00000381168.7:c.*562-6T= ENSP00000370560.3:n.*562-6T=
ENST00000381175.5:c.923-6T= ENSP00000370567.1:n.923-6T=
ENST00000381178.5:c.935-6T= ENSP00000370571.1:n.935-6T=
ENST00000412076.1:c.136-225T=
ENST00000416223.5:c.136-6T=
ENST00000461172.1:n.1T=
ENST00000479437.5:n.391-6T=
NM_000360.3:c.842-6T= NP_000351.2:n.842-6T=
NM_199292.2:c.935-6T= NP_954986.2:n.935-6T=
NM_199293.2:c.923-6T= NP_954987.2:n.923-6T=
XM_011520335.1:c.854-6T= XP_011518637.1:n.854-6T=
XM_011520335.2:c.854-6T= XP_011518637.1:n.854-6T=
NM_000360.4:c.842-6T= MANE Select NP_000351.2:n.842-6T=
NM_199292.3:c.935-6T= NP_954986.2:n.935-6T=
NM_199293.3:c.923-6T= NP_954987.2:n.923-6T=