Canonical Allele Identifier: CA1948006693

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167474A= , CM000673.2:g.2167474A=	GRCh38
NC_000011.9:g.2188704A= , CM000673.1:g.2188704A=	GRCh37
NC_000011.8:g.2145280A=	NCBI36
NG_008128.1:g.9332T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.656T= MANE Select	NP_000351.2:p.Ile219=
ENST00000352909.8:c.656T= MANE Select	ENSP00000325951.4:p.Ile219=
NM_000360.3:c.656T=	NP_000351.2:p.Ile219=
NM_199292.2:c.749T=	NP_954986.2:p.Ile250=
NM_199292.3:c.749T=	NP_954986.2:p.Ile250=
NM_199293.2:c.737T=	NP_954987.2:p.Ile246=
NM_199293.3:c.737T=	NP_954987.2:p.Ile246=
ENST00000324155.8:c.*345T=	ENSP00000325831.3:n.*345T=
ENST00000333684.9:c.656T=	ENSP00000328814.6:p.Ile219=
ENST00000352909.7:c.656T=	ENSP00000325951.3:p.Ile219=
ENST00000381168.7:c.*376T=	ENSP00000370560.3:n.*376T=
ENST00000381175.5:c.737T=	ENSP00000370567.1:p.Ile246=
ENST00000381178.5:c.749T=	ENSP00000370571.1:p.Ile250=
ENST00000412076.1:c.96T=
ENST00000416223.5:c.96T=
ENST00000469226.1:n.785T=
XM_011520335.1:c.668T=	XP_011518637.1:p.Ile223=
XM_011520335.2:c.668T=	XP_011518637.1:p.Ile223=