Canonical Allele Identifier: CA1948003614

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165326G= , CM000673.2:g.2165326G=	GRCh38
NC_000011.9:g.2186556G= , CM000673.1:g.2186556G=	GRCh37
NC_000011.8:g.2143132G=	NCBI36
NG_007114.1:g.869C=
NG_008128.1:g.11480C=
NG_050578.1:g.884C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1240C= MANE Select	ENSP00000325951.4:p.Pro414=
ENST00000324155.8:c.*929C=	ENSP00000325831.3:n.*929C=
ENST00000333684.9:c.958C=	ENSP00000328814.6:p.Pro320=
ENST00000352909.7:c.1240C=	ENSP00000325951.3:p.Pro414=
ENST00000381175.5:c.1321C=	ENSP00000370567.1:p.Pro441=
ENST00000381178.5:c.1333C=	ENSP00000370571.1:p.Pro445=
NM_000360.3:c.1240C=	NP_000351.2:p.Pro414=
NM_199292.2:c.1333C=	NP_954986.2:p.Pro445=
NM_199293.2:c.1321C=	NP_954987.2:p.Pro441=
XM_011520335.1:c.1252C=	XP_011518637.1:p.Pro418=
XM_011520335.2:c.1252C=	XP_011518637.1:p.Pro418=
NM_000360.4:c.1240C= MANE Select	NP_000351.2:p.Pro414=
NM_199292.3:c.1333C=	NP_954986.2:p.Pro445=
NM_199293.3:c.1321C=	NP_954987.2:p.Pro441=