Canonical Allele Identifier: CA1948011619
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171432A= , CM000673.2:g.2171432A= GRCh38
NC_000011.9:g.2192662A= , CM000673.1:g.2192662A= GRCh37
NC_000011.8:g.2149238A= NCBI36
NG_008128.1:g.5374T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.90+265T= MANE Select ENSP00000325951.4:n.90+265T=
ENST00000324155.8:c.90+265T= ENSP00000325831.3:n.90+265T=
ENST00000333684.9:c.90+265T= ENSP00000328814.6:n.90+265T=
ENST00000352909.7:c.90+265T= ENSP00000325951.3:n.90+265T=
ENST00000381168.7:c.102+253T= ENSP00000370560.3:n.102+253T=
ENST00000381175.5:c.90+265T= ENSP00000370567.1:n.90+265T=
ENST00000381178.5:c.102+253T= ENSP00000370571.1:n.102+253T=
NM_000360.3:c.90+265T= NP_000351.2:n.90+265T=
NM_199292.2:c.102+253T= NP_954986.2:n.102+253T=
NM_199293.2:c.90+265T= NP_954987.2:n.90+265T=
XM_011520335.1:c.102+253T= XP_011518637.1:n.102+253T=
XM_011520335.2:c.102+253T= XP_011518637.1:n.102+253T=
NM_000360.4:c.90+265T= MANE Select NP_000351.2:n.90+265T=
NM_199292.3:c.102+253T= NP_954986.2:n.102+253T=
NM_199293.3:c.90+265T= NP_954987.2:n.90+265T=