Canonical Allele Identifier: CA1948005308
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166634G= , CM000673.2:g.2166634G= GRCh38
NC_000011.9:g.2187864G= , CM000673.1:g.2187864G= GRCh37
NC_000011.8:g.2144440G= NCBI36
NG_008128.1:g.10172C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.976C= MANE Select ENSP00000325951.4:p.Pro326=
ENST00000324155.8:c.*665C= ENSP00000325831.3:n.*665C=
ENST00000333684.9:c.696-85C= ENSP00000328814.6:n.696-85C=
ENST00000352909.7:c.976C= ENSP00000325951.3:p.Pro326=
ENST00000381168.7:c.*696C= ENSP00000370560.3:n.*696C=
ENST00000381175.5:c.1057C= ENSP00000370567.1:p.Pro353=
ENST00000381178.5:c.1069C= ENSP00000370571.1:p.Pro357=
ENST00000412076.1:c.136-85C=
ENST00000416223.5:c.270C=
ENST00000461172.1:n.141C=
ENST00000479437.5:n.525C=
NM_000360.3:c.976C= NP_000351.2:p.Pro326=
NM_199292.2:c.1069C= NP_954986.2:p.Pro357=
NM_199293.2:c.1057C= NP_954987.2:p.Pro353=
XM_011520335.1:c.988C= XP_011518637.1:p.Pro330=
XM_011520335.2:c.988C= XP_011518637.1:p.Pro330=
NM_000360.4:c.976C= MANE Select NP_000351.2:p.Pro326=
NM_199292.3:c.1069C= NP_954986.2:p.Pro357=
NM_199293.3:c.1057C= NP_954987.2:p.Pro353=