Canonical Allele Identifier: CA1948005525

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166762G= , CM000673.2:g.2166762G=	GRCh38
NC_000011.9:g.2187992G= , CM000673.1:g.2187992G=	GRCh37
NC_000011.8:g.2144568G=	NCBI36
NG_008128.1:g.10044C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.848C= MANE Select	NP_000351.2:p.Thr283=
ENST00000352909.8:c.848C= MANE Select	ENSP00000325951.4:p.Thr283=
NM_000360.3:c.848C=	NP_000351.2:p.Thr283=
NM_199292.2:c.941C=	NP_954986.2:p.Thr314=
NM_199292.3:c.941C=	NP_954986.2:p.Thr314=
NM_199293.2:c.929C=	NP_954987.2:p.Thr310=
NM_199293.3:c.929C=	NP_954987.2:p.Thr310=
ENST00000324155.8:c.*537C=	ENSP00000325831.3:n.*537C=
ENST00000333684.9:c.696-213C=	ENSP00000328814.6:n.696-213C=
ENST00000352909.7:c.848C=	ENSP00000325951.3:p.Thr283=
ENST00000381168.7:c.*568C=	ENSP00000370560.3:n.*568C=
ENST00000381175.5:c.929C=	ENSP00000370567.1:p.Thr310=
ENST00000381178.5:c.941C=	ENSP00000370571.1:p.Thr314=
ENST00000412076.1:c.136-213C=
ENST00000416223.5:c.142C=
ENST00000461172.1:n.13C=
ENST00000479437.5:n.397C=
XM_011520335.1:c.860C=	XP_011518637.1:p.Thr287=
XM_011520335.2:c.860C=	XP_011518637.1:p.Thr287=