Canonical Allele Identifier: CA1948005901
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166960A= , CM000673.2:g.2166960A= GRCh38
NC_000011.9:g.2188190A= , CM000673.1:g.2188190A= GRCh37
NC_000011.8:g.2144766A= NCBI36
NG_008128.1:g.9846T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.768T= MANE Select ENSP00000325951.4:p.Ala256=
ENST00000324155.8:c.*457T= ENSP00000325831.3:n.*457T=
ENST00000333684.9:c.696-411T= ENSP00000328814.6:n.696-411T=
ENST00000352909.7:c.768T= ENSP00000325951.3:p.Ala256=
ENST00000381168.7:c.*488T= ENSP00000370560.3:n.*488T=
ENST00000381175.5:c.849T= ENSP00000370567.1:p.Ala283=
ENST00000381178.5:c.861T= ENSP00000370571.1:p.Ala287=
ENST00000412076.1:c.136-411T=
ENST00000416223.5:c.136-192T=
ENST00000469226.1:n.897T=
ENST00000479437.5:n.317T=
NM_000360.3:c.768T= NP_000351.2:p.Ala256=
NM_199292.2:c.861T= NP_954986.2:p.Ala287=
NM_199293.2:c.849T= NP_954987.2:p.Ala283=
XM_011520335.1:c.780T= XP_011518637.1:p.Ala260=
XM_011520335.2:c.780T= XP_011518637.1:p.Ala260=
NM_000360.4:c.768T= MANE Select NP_000351.2:p.Ala256=
NM_199292.3:c.861T= NP_954986.2:p.Ala287=
NM_199293.3:c.849T= NP_954987.2:p.Ala283=