Canonical Allele Identifier: CA1948004114
Community Standard Title: NM_000360.4(TH):c.1200+9C=
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165659G= , CM000673.2:g.2165659G= GRCh38
NC_000011.9:g.2186889G= , CM000673.1:g.2186889G= GRCh37
NC_000011.8:g.2143465G= NCBI36
NG_007114.1:g.536C=
NG_008128.1:g.11147C=
NG_050578.1:g.551C=

Transcript Alleles

HGVS Amino-acid Change
NM_000360.4:c.1200+9C= MANE Select NP_000351.2:n.1200+9C=
ENST00000352909.8:c.1200+9C= MANE Select ENSP00000325951.4:n.1200+9C=
NM_000360.3:c.1200+9C= NP_000351.2:n.1200+9C=
NM_199292.2:c.1293+9C= NP_954986.2:n.1293+9C=
NM_199292.3:c.1293+9C= NP_954986.2:n.1293+9C=
NM_199293.2:c.1281+9C= NP_954987.2:n.1281+9C=
NM_199293.3:c.1281+9C= NP_954987.2:n.1281+9C=
ENST00000324155.8:c.*889+9C= ENSP00000325831.3:n.*889+9C=
ENST00000333684.9:c.918+9C= ENSP00000328814.6:n.918+9C=
ENST00000352909.7:c.1200+9C= ENSP00000325951.3:n.1200+9C=
ENST00000381175.5:c.1281+9C= ENSP00000370567.1:n.1281+9C=
ENST00000381178.5:c.1293+9C= ENSP00000370571.1:n.1293+9C=
XM_011520335.1:c.1212+9C= XP_011518637.1:n.1212+9C=
XM_011520335.2:c.1212+9C= XP_011518637.1:n.1212+9C=