Canonical Allele Identifier: CA1948005088

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166506C= , CM000673.2:g.2166506C=	GRCh38
NC_000011.9:g.2187736C= , CM000673.1:g.2187736C=	GRCh37
NC_000011.8:g.2144312C=	NCBI36
NG_008128.1:g.10300G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1021G= MANE Select	ENSP00000325951.4:p.Asp341=
ENST00000324155.8:c.*710G=	ENSP00000325831.3:n.*710G=
ENST00000333684.9:c.739G=	ENSP00000328814.6:p.Asp247=
ENST00000352909.7:c.1021G=	ENSP00000325951.3:p.Asp341=
ENST00000381168.7:c.*741G=	ENSP00000370560.3:n.*741G=
ENST00000381175.5:c.1102G=	ENSP00000370567.1:p.Asp368=
ENST00000381178.5:c.1114G=	ENSP00000370571.1:p.Asp372=
ENST00000412076.1:c.179G=
ENST00000416223.5:c.315G=
ENST00000461172.1:n.186G=
ENST00000479437.5:n.570G=
NM_000360.3:c.1021G=	NP_000351.2:p.Asp341=
NM_199292.2:c.1114G=	NP_954986.2:p.Asp372=
NM_199293.2:c.1102G=	NP_954987.2:p.Asp368=
XM_011520335.1:c.1033G=	XP_011518637.1:p.Asp345=
XM_011520335.2:c.1033G=	XP_011518637.1:p.Asp345=
NM_000360.4:c.1021G= MANE Select	NP_000351.2:p.Asp341=
NM_199292.3:c.1114G=	NP_954986.2:p.Asp372=
NM_199293.3:c.1102G=	NP_954987.2:p.Asp368=