Canonical Allele Identifier: CA1948009447
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169660T= , CM000673.2:g.2169660T= GRCh38
NC_000011.9:g.2190890T= , CM000673.1:g.2190890T= GRCh37
NC_000011.8:g.2147466T= NCBI36
NG_008128.1:g.7146A=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.302A= MANE Select ENSP00000325951.4:p.Lys101=
ENST00000324155.8:c.126A= ENSP00000325831.3:p.Glu42=
ENST00000333684.9:c.302A= ENSP00000328814.6:p.Lys101=
ENST00000352909.7:c.302A= ENSP00000325951.3:p.Lys101=
ENST00000381168.7:c.138A= ENSP00000370560.3:p.Glu46=
ENST00000381175.5:c.383A= ENSP00000370567.1:p.Lys128=
ENST00000381178.5:c.395A= ENSP00000370571.1:p.Lys132=
NM_000360.3:c.302A= NP_000351.2:p.Lys101=
NM_199292.2:c.395A= NP_954986.2:p.Lys132=
NM_199293.2:c.383A= NP_954987.2:p.Lys128=
XM_011520335.1:c.314A= XP_011518637.1:p.Lys105=
XM_011520335.2:c.314A= XP_011518637.1:p.Lys105=
NM_000360.4:c.302A= MANE Select NP_000351.2:p.Lys101=
NM_199292.3:c.395A= NP_954986.2:p.Lys132=
NM_199293.3:c.383A= NP_954987.2:p.Lys128=