Canonical Allele Identifier: CA1948008047

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2168489A= , CM000673.2:g.2168489A=	GRCh38
NC_000011.9:g.2189719A= , CM000673.1:g.2189719A=	GRCh37
NC_000011.8:g.2146295A=	NCBI36
NG_008128.1:g.8317T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.487+2T= MANE Select	NP_000351.2:n.487+2T=
ENST00000352909.8:c.487+2T= MANE Select	ENSP00000325951.4:n.487+2T=
NM_000360.3:c.487+2T=	NP_000351.2:n.487+2T=
NM_199292.2:c.580+2T=	NP_954986.2:n.580+2T=
NM_199292.3:c.580+2T=	NP_954986.2:n.580+2T=
NM_199293.2:c.568+2T=	NP_954987.2:n.568+2T=
NM_199293.3:c.568+2T=	NP_954987.2:n.568+2T=
ENST00000324155.8:c.*176+2T=	ENSP00000325831.3:n.*176+2T=
ENST00000333684.9:c.487+2T=	ENSP00000328814.6:n.487+2T=
ENST00000352909.7:c.487+2T=	ENSP00000325951.3:n.487+2T=
ENST00000381168.7:c.*176+2T=	ENSP00000370560.3:n.*176+2T=
ENST00000381175.5:c.568+2T=	ENSP00000370567.1:n.568+2T=
ENST00000381178.5:c.580+2T=	ENSP00000370571.1:n.580+2T=
ENST00000469226.1:n.236+2T=
XM_011520335.1:c.499+2T=	XP_011518637.1:n.499+2T=
XM_011520335.2:c.499+2T=	XP_011518637.1:n.499+2T=