Canonical Allele Identifier: CA1948005495

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166741A= , CM000673.2:g.2166741A=	GRCh38
NC_000011.9:g.2187971A= , CM000673.1:g.2187971A=	GRCh37
NC_000011.8:g.2144547A=	NCBI36
NG_008128.1:g.10065T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.869T= MANE Select	ENSP00000325951.4:p.Val290=
ENST00000324155.8:c.*558T=	ENSP00000325831.3:n.*558T=
ENST00000333684.9:c.696-192T=	ENSP00000328814.6:n.696-192T=
ENST00000352909.7:c.869T=	ENSP00000325951.3:p.Val290=
ENST00000381168.7:c.*589T=	ENSP00000370560.3:n.*589T=
ENST00000381175.5:c.950T=	ENSP00000370567.1:p.Val317=
ENST00000381178.5:c.962T=	ENSP00000370571.1:p.Val321=
ENST00000412076.1:c.136-192T=
ENST00000416223.5:c.163T=
ENST00000461172.1:n.34T=
ENST00000479437.5:n.418T=
NM_000360.3:c.869T=	NP_000351.2:p.Val290=
NM_199292.2:c.962T=	NP_954986.2:p.Val321=
NM_199293.2:c.950T=	NP_954987.2:p.Val317=
XM_011520335.1:c.881T=	XP_011518637.1:p.Val294=
XM_011520335.2:c.881T=	XP_011518637.1:p.Val294=
NM_000360.4:c.869T= MANE Select	NP_000351.2:p.Val290=
NM_199292.3:c.962T=	NP_954986.2:p.Val321=
NM_199293.3:c.950T=	NP_954987.2:p.Val317=