Canonical Allele Identifier: CA1948005984

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166990G= , CM000673.2:g.2166990G=	GRCh38
NC_000011.9:g.2188220G= , CM000673.1:g.2188220G=	GRCh37
NC_000011.8:g.2144796G=	NCBI36
NG_008128.1:g.9816C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.738C= MANE Select	ENSP00000325951.4:p.His246=
ENST00000324155.8:c.*427C=	ENSP00000325831.3:n.*427C=
ENST00000333684.9:c.696-441C=	ENSP00000328814.6:n.696-441C=
ENST00000352909.7:c.738C=	ENSP00000325951.3:p.His246=
ENST00000381168.7:c.*458C=	ENSP00000370560.3:n.*458C=
ENST00000381175.5:c.819C=	ENSP00000370567.1:p.His273=
ENST00000381178.5:c.831C=	ENSP00000370571.1:p.His277=
ENST00000412076.1:c.136-441C=
ENST00000416223.5:c.136-222C=
ENST00000469226.1:n.867C=
ENST00000479437.5:n.287C=
NM_000360.3:c.738C=	NP_000351.2:p.His246=
NM_199292.2:c.831C=	NP_954986.2:p.His277=
NM_199293.2:c.819C=	NP_954987.2:p.His273=
XM_011520335.1:c.750C=	XP_011518637.1:p.His250=
XM_011520335.2:c.750C=	XP_011518637.1:p.His250=
NM_000360.4:c.738C= MANE Select	NP_000351.2:p.His246=
NM_199292.3:c.831C=	NP_954986.2:p.His277=
NM_199293.3:c.819C=	NP_954987.2:p.His273=