Canonical Allele Identifier: CA1948002535

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2164327T= , CM000673.2:g.2164327T=	GRCh38
NC_000011.9:g.2185557T= , CM000673.1:g.2185557T=	GRCh37
NC_000011.8:g.2142133T=	NCBI36
NG_007114.1:g.1868A=
NG_008128.1:g.12479A=
NG_050578.1:g.1883A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.1400A= MANE Select	NP_000351.2:p.Asp467=
ENST00000352909.8:c.1400A= MANE Select	ENSP00000325951.4:p.Asp467=
NM_000360.3:c.1400A=	NP_000351.2:p.Asp467=
NM_199292.2:c.1493A=	NP_954986.2:p.Asp498=
NM_199292.3:c.1493A=	NP_954986.2:p.Asp498=
NM_199293.2:c.1481A=	NP_954987.2:p.Asp494=
NM_199293.3:c.1481A=	NP_954987.2:p.Asp494=
ENST00000333684.9:c.1118A=	ENSP00000328814.6:p.Asp373=
ENST00000352909.7:c.1400A=	ENSP00000325951.3:p.Asp467=
ENST00000381175.5:c.1481A=	ENSP00000370567.1:p.Asp494=
ENST00000381178.5:c.1493A=	ENSP00000370571.1:p.Asp498=
XM_011520335.1:c.1412A=	XP_011518637.1:p.Asp471=
XM_011520335.2:c.1412A=	XP_011518637.1:p.Asp471=