Canonical Allele Identifier: CA1948005530

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166764G= , CM000673.2:g.2166764G=	GRCh38
NC_000011.9:g.2187994G= , CM000673.1:g.2187994G=	GRCh37
NC_000011.8:g.2144570G=	NCBI36
NG_008128.1:g.10042C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.846C= MANE Select	ENSP00000325951.4:p.Arg282=
ENST00000324155.8:c.*535C=	ENSP00000325831.3:n.*535C=
ENST00000333684.9:c.696-215C=	ENSP00000328814.6:n.696-215C=
ENST00000352909.7:c.846C=	ENSP00000325951.3:p.Arg282=
ENST00000381168.7:c.*566C=	ENSP00000370560.3:n.*566C=
ENST00000381175.5:c.927C=	ENSP00000370567.1:p.Arg309=
ENST00000381178.5:c.939C=	ENSP00000370571.1:p.Arg313=
ENST00000412076.1:c.136-215C=
ENST00000416223.5:c.140C=
ENST00000461172.1:n.11C=
ENST00000479437.5:n.395C=
NM_000360.3:c.846C=	NP_000351.2:p.Arg282=
NM_199292.2:c.939C=	NP_954986.2:p.Arg313=
NM_199293.2:c.927C=	NP_954987.2:p.Arg309=
XM_011520335.1:c.858C=	XP_011518637.1:p.Arg286=
XM_011520335.2:c.858C=	XP_011518637.1:p.Arg286=
NM_000360.4:c.846C= MANE Select	NP_000351.2:p.Arg282=
NM_199292.3:c.939C=	NP_954986.2:p.Arg313=
NM_199293.3:c.927C=	NP_954987.2:p.Arg309=