Canonical Allele Identifier: CA1948005482

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166731C= , CM000673.2:g.2166731C=	GRCh38
NC_000011.9:g.2187961C= , CM000673.1:g.2187961C=	GRCh37
NC_000011.8:g.2144537C=	NCBI36
NG_008128.1:g.10075G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.879G= MANE Select	ENSP00000325951.4:p.Leu293=
ENST00000324155.8:c.*568G=	ENSP00000325831.3:n.*568G=
ENST00000333684.9:c.696-182G=	ENSP00000328814.6:n.696-182G=
ENST00000352909.7:c.879G=	ENSP00000325951.3:p.Leu293=
ENST00000381168.7:c.*599G=	ENSP00000370560.3:n.*599G=
ENST00000381175.5:c.960G=	ENSP00000370567.1:p.Leu320=
ENST00000381178.5:c.972G=	ENSP00000370571.1:p.Leu324=
ENST00000412076.1:c.136-182G=
ENST00000416223.5:c.173G=
ENST00000461172.1:n.44G=
ENST00000479437.5:n.428G=
NM_000360.3:c.879G=	NP_000351.2:p.Leu293=
NM_199292.2:c.972G=	NP_954986.2:p.Leu324=
NM_199293.2:c.960G=	NP_954987.2:p.Leu320=
XM_011520335.1:c.891G=	XP_011518637.1:p.Leu297=
XM_011520335.2:c.891G=	XP_011518637.1:p.Leu297=
NM_000360.4:c.879G= MANE Select	NP_000351.2:p.Leu293=
NM_199292.3:c.972G=	NP_954986.2:p.Leu324=
NM_199293.3:c.960G=	NP_954987.2:p.Leu320=