Canonical Allele Identifier: CA1948002429
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2164237C= , CM000673.2:g.2164237C= GRCh38
NC_000011.9:g.2185467C= , CM000673.1:g.2185467C= GRCh37
NC_000011.8:g.2142043C= NCBI36
NG_007114.1:g.1958G=
NG_008128.1:g.12569G=
NG_050578.1:g.1973G=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.1490G= MANE Select ENSP00000325951.4:p.Gly497=
ENST00000333684.9:c.1208G= ENSP00000328814.6:p.Gly403=
ENST00000352909.7:c.1490G= ENSP00000325951.3:p.Gly497=
ENST00000381175.5:c.1571G= ENSP00000370567.1:p.Gly524=
ENST00000381178.5:c.1583G= ENSP00000370571.1:p.Gly528=
NM_000360.3:c.1490G= NP_000351.2:p.Gly497=
NM_199292.2:c.1583G= NP_954986.2:p.Gly528=
NM_199293.2:c.1571G= NP_954987.2:p.Gly524=
XM_011520335.1:c.1502G= XP_011518637.1:p.Gly501=
XM_011520335.2:c.1502G= XP_011518637.1:p.Gly501=
NM_000360.4:c.1490G= MANE Select NP_000351.2:p.Gly497=
NM_199292.3:c.1583G= NP_954986.2:p.Gly528=
NM_199293.3:c.1571G= NP_954987.2:p.Gly524=