Canonical Allele Identifier: CA1948005946

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166974G= , CM000673.2:g.2166974G=	GRCh38
NC_000011.9:g.2188204G= , CM000673.1:g.2188204G=	GRCh37
NC_000011.8:g.2144780G=	NCBI36
NG_008128.1:g.9832C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.754C= MANE Select	ENSP00000325951.4:p.Leu252=
ENST00000324155.8:c.*443C=	ENSP00000325831.3:n.*443C=
ENST00000333684.9:c.696-425C=	ENSP00000328814.6:n.696-425C=
ENST00000352909.7:c.754C=	ENSP00000325951.3:p.Leu252=
ENST00000381168.7:c.*474C=	ENSP00000370560.3:n.*474C=
ENST00000381175.5:c.835C=	ENSP00000370567.1:p.Leu279=
ENST00000381178.5:c.847C=	ENSP00000370571.1:p.Leu283=
ENST00000412076.1:c.136-425C=
ENST00000416223.5:c.136-206C=
ENST00000469226.1:n.883C=
ENST00000479437.5:n.303C=
NM_000360.3:c.754C=	NP_000351.2:p.Leu252=
NM_199292.2:c.847C=	NP_954986.2:p.Leu283=
NM_199293.2:c.835C=	NP_954987.2:p.Leu279=
XM_011520335.1:c.766C=	XP_011518637.1:p.Leu256=
XM_011520335.2:c.766C=	XP_011518637.1:p.Leu256=
NM_000360.4:c.754C= MANE Select	NP_000351.2:p.Leu252=
NM_199292.3:c.847C=	NP_954986.2:p.Leu283=
NM_199293.3:c.835C=	NP_954987.2:p.Leu279=