Canonical Allele Identifier: CA1948002571

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2164339G= , CM000673.2:g.2164339G=	GRCh38
NC_000011.9:g.2185569G= , CM000673.1:g.2185569G=	GRCh37
NC_000011.8:g.2142145G=	NCBI36
NG_007114.1:g.1856C=
NG_008128.1:g.12467C=
NG_050578.1:g.1871C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.1388C= MANE Select	NP_000351.2:p.Thr463=
ENST00000352909.8:c.1388C= MANE Select	ENSP00000325951.4:p.Thr463=
NM_000360.3:c.1388C=	NP_000351.2:p.Thr463=
NM_199292.2:c.1481C=	NP_954986.2:p.Thr494=
NM_199292.3:c.1481C=	NP_954986.2:p.Thr494=
NM_199293.2:c.1469C=	NP_954987.2:p.Thr490=
NM_199293.3:c.1469C=	NP_954987.2:p.Thr490=
ENST00000333684.9:c.1106C=	ENSP00000328814.6:p.Thr369=
ENST00000352909.7:c.1388C=	ENSP00000325951.3:p.Thr463=
ENST00000381175.5:c.1469C=	ENSP00000370567.1:p.Thr490=
ENST00000381178.5:c.1481C=	ENSP00000370571.1:p.Thr494=
XM_011520335.1:c.1400C=	XP_011518637.1:p.Thr467=
XM_011520335.2:c.1400C=	XP_011518637.1:p.Thr467=