Canonical Allele Identifier: CA1948006024

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167001A= , CM000673.2:g.2167001A=	GRCh38
NC_000011.9:g.2188231A= , CM000673.1:g.2188231A=	GRCh37
NC_000011.8:g.2144807A=	NCBI36
NG_008128.1:g.9805T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.727T= MANE Select	ENSP00000325951.4:p.Tyr243=
ENST00000324155.8:c.*416T=	ENSP00000325831.3:n.*416T=
ENST00000333684.9:c.695+434T=	ENSP00000328814.6:n.695+434T=
ENST00000352909.7:c.727T=	ENSP00000325951.3:p.Tyr243=
ENST00000381168.7:c.*447T=	ENSP00000370560.3:n.*447T=
ENST00000381175.5:c.808T=	ENSP00000370567.1:p.Tyr270=
ENST00000381178.5:c.820T=	ENSP00000370571.1:p.Tyr274=
ENST00000412076.1:c.135+434T=
ENST00000416223.5:c.136-233T=
ENST00000469226.1:n.856T=
ENST00000479437.5:n.276T=
NM_000360.3:c.727T=	NP_000351.2:p.Tyr243=
NM_199292.2:c.820T=	NP_954986.2:p.Tyr274=
NM_199293.2:c.808T=	NP_954987.2:p.Tyr270=
XM_011520335.1:c.739T=	XP_011518637.1:p.Tyr247=
XM_011520335.2:c.739T=	XP_011518637.1:p.Tyr247=
NM_000360.4:c.727T= MANE Select	NP_000351.2:p.Tyr243=
NM_199292.3:c.820T=	NP_954986.2:p.Tyr274=
NM_199293.3:c.808T=	NP_954987.2:p.Tyr270=