Canonical Allele Identifier: CA1948004330
Community Standard Title: NM_000360.4(TH):c.1105-24T=
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165787A= , CM000673.2:g.2165787A= GRCh38
NC_000011.9:g.2187017A= , CM000673.1:g.2187017A= GRCh37
NC_000011.8:g.2143593A= NCBI36
NG_007114.1:g.408T=
NG_008128.1:g.11019T=
NG_050578.1:g.423T=

Transcript Alleles

HGVS Amino-acid Change
NM_000360.4:c.1105-24T= MANE Select NP_000351.2:n.1105-24T=
ENST00000352909.8:c.1105-24T= MANE Select ENSP00000325951.4:n.1105-24T=
NM_000360.3:c.1105-24T= NP_000351.2:n.1105-24T=
NM_199292.2:c.1198-24T= NP_954986.2:n.1198-24T=
NM_199292.3:c.1198-24T= NP_954986.2:n.1198-24T=
NM_199293.2:c.1186-24T= NP_954987.2:n.1186-24T=
NM_199293.3:c.1186-24T= NP_954987.2:n.1186-24T=
ENST00000324155.8:c.*794-24T= ENSP00000325831.3:n.*794-24T=
ENST00000333684.9:c.823-24T= ENSP00000328814.6:n.823-24T=
ENST00000352909.7:c.1105-24T= ENSP00000325951.3:n.1105-24T=
ENST00000381175.5:c.1186-24T= ENSP00000370567.1:n.1186-24T=
ENST00000381178.5:c.1198-24T= ENSP00000370571.1:n.1198-24T=
ENST00000412076.1:c.263-24T=
ENST00000416223.5:c.399-24T=
ENST00000479437.5:n.654-24T=
XM_011520335.1:c.1117-24T= XP_011518637.1:n.1117-24T=
XM_011520335.2:c.1117-24T= XP_011518637.1:n.1117-24T=