Canonical Allele Identifier: CA1948005976

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166988G= , CM000673.2:g.2166988G=	GRCh38
NC_000011.9:g.2188218G= , CM000673.1:g.2188218G=	GRCh37
NC_000011.8:g.2144794G=	NCBI36
NG_008128.1:g.9818C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.740C= MANE Select	ENSP00000325951.4:p.Ala247=
ENST00000324155.8:c.*429C=	ENSP00000325831.3:n.*429C=
ENST00000333684.9:c.696-439C=	ENSP00000328814.6:n.696-439C=
ENST00000352909.7:c.740C=	ENSP00000325951.3:p.Ala247=
ENST00000381168.7:c.*460C=	ENSP00000370560.3:n.*460C=
ENST00000381175.5:c.821C=	ENSP00000370567.1:p.Ala274=
ENST00000381178.5:c.833C=	ENSP00000370571.1:p.Ala278=
ENST00000412076.1:c.136-439C=
ENST00000416223.5:c.136-220C=
ENST00000469226.1:n.869C=
ENST00000479437.5:n.289C=
NM_000360.3:c.740C=	NP_000351.2:p.Ala247=
NM_199292.2:c.833C=	NP_954986.2:p.Ala278=
NM_199293.2:c.821C=	NP_954987.2:p.Ala274=
XM_011520335.1:c.752C=	XP_011518637.1:p.Ala251=
XM_011520335.2:c.752C=	XP_011518637.1:p.Ala251=
NM_000360.4:c.740C= MANE Select	NP_000351.2:p.Ala247=
NM_199292.3:c.833C=	NP_954986.2:p.Ala278=
NM_199293.3:c.821C=	NP_954987.2:p.Ala274=