Canonical Allele Identifier: CA1948005819

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166919G= , CM000673.2:g.2166919G=	GRCh38
NC_000011.9:g.2188149G= , CM000673.1:g.2188149G=	GRCh37
NC_000011.8:g.2144725G=	NCBI36
NG_008128.1:g.9887C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.809C= MANE Select	ENSP00000325951.4:p.Pro270=
ENST00000324155.8:c.*498C=	ENSP00000325831.3:n.*498C=
ENST00000333684.9:c.696-370C=	ENSP00000328814.6:n.696-370C=
ENST00000352909.7:c.809C=	ENSP00000325951.3:p.Pro270=
ENST00000381168.7:c.*529C=	ENSP00000370560.3:n.*529C=
ENST00000381175.5:c.890C=	ENSP00000370567.1:p.Pro297=
ENST00000381178.5:c.902C=	ENSP00000370571.1:p.Pro301=
ENST00000412076.1:c.136-370C=
ENST00000416223.5:c.136-151C=
ENST00000469226.1:n.938C=
ENST00000479437.5:n.358C=
NM_000360.3:c.809C=	NP_000351.2:p.Pro270=
NM_199292.2:c.902C=	NP_954986.2:p.Pro301=
NM_199293.2:c.890C=	NP_954987.2:p.Pro297=
XM_011520335.1:c.821C=	XP_011518637.1:p.Pro274=
XM_011520335.2:c.821C=	XP_011518637.1:p.Pro274=
NM_000360.4:c.809C= MANE Select	NP_000351.2:p.Pro270=
NM_199292.3:c.902C=	NP_954986.2:p.Pro301=
NM_199293.3:c.890C=	NP_954987.2:p.Pro297=