Canonical Allele Identifier: CA1948005322
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166640G= , CM000673.2:g.2166640G= GRCh38
NC_000011.9:g.2187870G= , CM000673.1:g.2187870G= GRCh37
NC_000011.8:g.2144446G= NCBI36
NG_008128.1:g.10166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.970C= MANE Select ENSP00000325951.4:p.Pro324=
ENST00000324155.8:c.*659C= ENSP00000325831.3:n.*659C=
ENST00000333684.9:c.696-91C= ENSP00000328814.6:n.696-91C=
ENST00000352909.7:c.970C= ENSP00000325951.3:p.Pro324=
ENST00000381168.7:c.*690C= ENSP00000370560.3:n.*690C=
ENST00000381175.5:c.1051C= ENSP00000370567.1:p.Pro351=
ENST00000381178.5:c.1063C= ENSP00000370571.1:p.Pro355=
ENST00000412076.1:c.136-91C=
ENST00000416223.5:c.264C=
ENST00000461172.1:n.135C=
ENST00000479437.5:n.519C=
NM_000360.3:c.970C= NP_000351.2:p.Pro324=
NM_199292.2:c.1063C= NP_954986.2:p.Pro355=
NM_199293.2:c.1051C= NP_954987.2:p.Pro351=
XM_011520335.1:c.982C= XP_011518637.1:p.Pro328=
XM_011520335.2:c.982C= XP_011518637.1:p.Pro328=
NM_000360.4:c.970C= MANE Select NP_000351.2:p.Pro324=
NM_199292.3:c.1063C= NP_954986.2:p.Pro355=
NM_199293.3:c.1051C= NP_954987.2:p.Pro351=