Canonical Allele Identifier: CA1948009647
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169766C= , CM000673.2:g.2169766C= GRCh38
NC_000011.9:g.2190996C= , CM000673.1:g.2190996C= GRCh37
NC_000011.8:g.2147572C= NCBI36
NG_008128.1:g.7040G=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.196G= MANE Select ENSP00000325951.4:p.Asp66=
ENST00000324155.8:c.91-71G= ENSP00000325831.3:n.91-71G=
ENST00000333684.9:c.196G= ENSP00000328814.6:p.Asp66=
ENST00000352909.7:c.196G= ENSP00000325951.3:p.Asp66=
ENST00000381168.7:c.103-71G= ENSP00000370560.3:n.103-71G=
ENST00000381175.5:c.277G= ENSP00000370567.1:p.Asp93=
ENST00000381178.5:c.289G= ENSP00000370571.1:p.Asp97=
NM_000360.3:c.196G= NP_000351.2:p.Asp66=
NM_199292.2:c.289G= NP_954986.2:p.Asp97=
NM_199293.2:c.277G= NP_954987.2:p.Asp93=
XM_011520335.1:c.208G= XP_011518637.1:p.Asp70=
XM_011520335.2:c.208G= XP_011518637.1:p.Asp70=
NM_000360.4:c.196G= MANE Select NP_000351.2:p.Asp66=
NM_199292.3:c.289G= NP_954986.2:p.Asp97=
NM_199293.3:c.277G= NP_954987.2:p.Asp93=