Canonical Allele Identifier: CA1948003635

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165334G= , CM000673.2:g.2165334G=	GRCh38
NC_000011.9:g.2186564G= , CM000673.1:g.2186564G=	GRCh37
NC_000011.8:g.2143140G=	NCBI36
NG_007114.1:g.861C=
NG_008128.1:g.11472C=
NG_050578.1:g.876C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1232C= MANE Select	ENSP00000325951.4:p.Ala411=
ENST00000324155.8:c.*921C=	ENSP00000325831.3:n.*921C=
ENST00000333684.9:c.950C=	ENSP00000328814.6:p.Ala317=
ENST00000352909.7:c.1232C=	ENSP00000325951.3:p.Ala411=
ENST00000381175.5:c.1313C=	ENSP00000370567.1:p.Ala438=
ENST00000381178.5:c.1325C=	ENSP00000370571.1:p.Ala442=
NM_000360.3:c.1232C=	NP_000351.2:p.Ala411=
NM_199292.2:c.1325C=	NP_954986.2:p.Ala442=
NM_199293.2:c.1313C=	NP_954987.2:p.Ala438=
XM_011520335.1:c.1244C=	XP_011518637.1:p.Ala415=
XM_011520335.2:c.1244C=	XP_011518637.1:p.Ala415=
NM_000360.4:c.1232C= MANE Select	NP_000351.2:p.Ala411=
NM_199292.3:c.1325C=	NP_954986.2:p.Ala442=
NM_199293.3:c.1313C=	NP_954987.2:p.Ala438=