Canonical Allele Identifier: CA1948005790

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166905C= , CM000673.2:g.2166905C=	GRCh38
NC_000011.9:g.2188135C= , CM000673.1:g.2188135C=	GRCh37
NC_000011.8:g.2144711C=	NCBI36
NG_008128.1:g.9901G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.823G= MANE Select	ENSP00000325951.4:p.Val275=
ENST00000324155.8:c.*512G=	ENSP00000325831.3:n.*512G=
ENST00000333684.9:c.696-356G=	ENSP00000328814.6:n.696-356G=
ENST00000352909.7:c.823G=	ENSP00000325951.3:p.Val275=
ENST00000381168.7:c.*543G=	ENSP00000370560.3:n.*543G=
ENST00000381175.5:c.904G=	ENSP00000370567.1:p.Val302=
ENST00000381178.5:c.916G=	ENSP00000370571.1:p.Val306=
ENST00000412076.1:c.136-356G=
ENST00000416223.5:c.136-137G=
ENST00000469226.1:n.952G=
ENST00000479437.5:n.372G=
NM_000360.3:c.823G=	NP_000351.2:p.Val275=
NM_199292.2:c.916G=	NP_954986.2:p.Val306=
NM_199293.2:c.904G=	NP_954987.2:p.Val302=
XM_011520335.1:c.835G=	XP_011518637.1:p.Val279=
XM_011520335.2:c.835G=	XP_011518637.1:p.Val279=
NM_000360.4:c.823G= MANE Select	NP_000351.2:p.Val275=
NM_199292.3:c.916G=	NP_954986.2:p.Val306=
NM_199293.3:c.904G=	NP_954987.2:p.Val302=