Canonical Allele Identifier: CA1948005128

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166531C= , CM000673.2:g.2166531C=	GRCh38
NC_000011.9:g.2187761C= , CM000673.1:g.2187761C=	GRCh37
NC_000011.8:g.2144337C=	NCBI36
NG_008128.1:g.10275G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.996G= MANE Select	ENSP00000325951.4:p.Leu332=
ENST00000324155.8:c.*685G=	ENSP00000325831.3:n.*685G=
ENST00000333684.9:c.714G=	ENSP00000328814.6:p.Leu238=
ENST00000352909.7:c.996G=	ENSP00000325951.3:p.Leu332=
ENST00000381168.7:c.*716G=	ENSP00000370560.3:n.*716G=
ENST00000381175.5:c.1077G=	ENSP00000370567.1:p.Leu359=
ENST00000381178.5:c.1089G=	ENSP00000370571.1:p.Leu363=
ENST00000412076.1:c.154G=
ENST00000416223.5:c.290G=
ENST00000461172.1:n.161G=
ENST00000479437.5:n.545G=
NM_000360.3:c.996G=	NP_000351.2:p.Leu332=
NM_199292.2:c.1089G=	NP_954986.2:p.Leu363=
NM_199293.2:c.1077G=	NP_954987.2:p.Leu359=
XM_011520335.1:c.1008G=	XP_011518637.1:p.Leu336=
XM_011520335.2:c.1008G=	XP_011518637.1:p.Leu336=
NM_000360.4:c.996G= MANE Select	NP_000351.2:p.Leu332=
NM_199292.3:c.1089G=	NP_954986.2:p.Leu363=
NM_199293.3:c.1077G=	NP_954987.2:p.Leu359=