Canonical Allele Identifier: CA1948005354

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166661C= , CM000673.2:g.2166661C=	GRCh38
NC_000011.9:g.2187891C= , CM000673.1:g.2187891C=	GRCh37
NC_000011.8:g.2144467C=	NCBI36
NG_008128.1:g.10145G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.949G= MANE Select	ENSP00000325951.4:p.Ala317=
ENST00000324155.8:c.*638G=	ENSP00000325831.3:n.*638G=
ENST00000333684.9:c.696-112G=	ENSP00000328814.6:n.696-112G=
ENST00000352909.7:c.949G=	ENSP00000325951.3:p.Ala317=
ENST00000381168.7:c.*669G=	ENSP00000370560.3:n.*669G=
ENST00000381175.5:c.1030G=	ENSP00000370567.1:p.Ala344=
ENST00000381178.5:c.1042G=	ENSP00000370571.1:p.Ala348=
ENST00000412076.1:c.136-112G=
ENST00000416223.5:c.243G=
ENST00000461172.1:n.114G=
ENST00000479437.5:n.498G=
NM_000360.3:c.949G=	NP_000351.2:p.Ala317=
NM_199292.2:c.1042G=	NP_954986.2:p.Ala348=
NM_199293.2:c.1030G=	NP_954987.2:p.Ala344=
XM_011520335.1:c.961G=	XP_011518637.1:p.Ala321=
XM_011520335.2:c.961G=	XP_011518637.1:p.Ala321=
NM_000360.4:c.949G= MANE Select	NP_000351.2:p.Ala317=
NM_199292.3:c.1042G=	NP_954986.2:p.Ala348=
NM_199293.3:c.1030G=	NP_954987.2:p.Ala344=