Canonical Allele Identifier: CA1948005520

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166761C= , CM000673.2:g.2166761C=	GRCh38
NC_000011.9:g.2187991C= , CM000673.1:g.2187991C=	GRCh37
NC_000011.8:g.2144567C=	NCBI36
NG_008128.1:g.10045G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.849G= MANE Select	ENSP00000325951.4:p.Thr283=
ENST00000324155.8:c.*538G=	ENSP00000325831.3:n.*538G=
ENST00000333684.9:c.696-212G=	ENSP00000328814.6:n.696-212G=
ENST00000352909.7:c.849G=	ENSP00000325951.3:p.Thr283=
ENST00000381168.7:c.*569G=	ENSP00000370560.3:n.*569G=
ENST00000381175.5:c.930G=	ENSP00000370567.1:p.Thr310=
ENST00000381178.5:c.942G=	ENSP00000370571.1:p.Thr314=
ENST00000412076.1:c.136-212G=
ENST00000416223.5:c.143G=
ENST00000461172.1:n.14G=
ENST00000479437.5:n.398G=
NM_000360.3:c.849G=	NP_000351.2:p.Thr283=
NM_199292.2:c.942G=	NP_954986.2:p.Thr314=
NM_199293.2:c.930G=	NP_954987.2:p.Thr310=
XM_011520335.1:c.861G=	XP_011518637.1:p.Thr287=
XM_011520335.2:c.861G=	XP_011518637.1:p.Thr287=
NM_000360.4:c.849G= MANE Select	NP_000351.2:p.Thr283=
NM_199292.3:c.942G=	NP_954986.2:p.Thr314=
NM_199293.3:c.930G=	NP_954987.2:p.Thr310=