Canonical Allele Identifier: CA1948005821

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166921G= , CM000673.2:g.2166921G=	GRCh38
NC_000011.9:g.2188151G= , CM000673.1:g.2188151G=	GRCh37
NC_000011.8:g.2144727G=	NCBI36
NG_008128.1:g.9885C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.807C= MANE Select	ENSP00000325951.4:p.Ile269=
ENST00000324155.8:c.*496C=	ENSP00000325831.3:n.*496C=
ENST00000333684.9:c.696-372C=	ENSP00000328814.6:n.696-372C=
ENST00000352909.7:c.807C=	ENSP00000325951.3:p.Ile269=
ENST00000381168.7:c.*527C=	ENSP00000370560.3:n.*527C=
ENST00000381175.5:c.888C=	ENSP00000370567.1:p.Ile296=
ENST00000381178.5:c.900C=	ENSP00000370571.1:p.Ile300=
ENST00000412076.1:c.136-372C=
ENST00000416223.5:c.136-153C=
ENST00000469226.1:n.936C=
ENST00000479437.5:n.356C=
NM_000360.3:c.807C=	NP_000351.2:p.Ile269=
NM_199292.2:c.900C=	NP_954986.2:p.Ile300=
NM_199293.2:c.888C=	NP_954987.2:p.Ile296=
XM_011520335.1:c.819C=	XP_011518637.1:p.Ile273=
XM_011520335.2:c.819C=	XP_011518637.1:p.Ile273=
NM_000360.4:c.807C= MANE Select	NP_000351.2:p.Ile269=
NM_199292.3:c.900C=	NP_954986.2:p.Ile300=
NM_199293.3:c.888C=	NP_954987.2:p.Ile296=