Canonical Allele Identifier: CA1948005094

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166509C= , CM000673.2:g.2166509C=	GRCh38
NC_000011.9:g.2187739C= , CM000673.1:g.2187739C=	GRCh37
NC_000011.8:g.2144315C=	NCBI36
NG_008128.1:g.10297G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1018G= MANE Select	ENSP00000325951.4:p.Ala340=
ENST00000324155.8:c.*707G=	ENSP00000325831.3:n.*707G=
ENST00000333684.9:c.736G=	ENSP00000328814.6:p.Ala246=
ENST00000352909.7:c.1018G=	ENSP00000325951.3:p.Ala340=
ENST00000381168.7:c.*738G=	ENSP00000370560.3:n.*738G=
ENST00000381175.5:c.1099G=	ENSP00000370567.1:p.Ala367=
ENST00000381178.5:c.1111G=	ENSP00000370571.1:p.Ala371=
ENST00000412076.1:c.176G=
ENST00000416223.5:c.312G=
ENST00000461172.1:n.183G=
ENST00000479437.5:n.567G=
NM_000360.3:c.1018G=	NP_000351.2:p.Ala340=
NM_199292.2:c.1111G=	NP_954986.2:p.Ala371=
NM_199293.2:c.1099G=	NP_954987.2:p.Ala367=
XM_011520335.1:c.1030G=	XP_011518637.1:p.Ala344=
XM_011520335.2:c.1030G=	XP_011518637.1:p.Ala344=
NM_000360.4:c.1018G= MANE Select	NP_000351.2:p.Ala340=
NM_199292.3:c.1111G=	NP_954986.2:p.Ala371=
NM_199293.3:c.1099G=	NP_954987.2:p.Ala367=