Canonical Allele Identifier: CA3183114502

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167011C= , CM000673.2:g.2167011C=	GRCh38
NC_000011.9:g.2188241C= , CM000673.1:g.2188241C=	GRCh37
NC_000011.8:g.2144817C=	NCBI36
NG_008128.1:g.9795G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.717G= MANE Select	NP_000351.2:p.Leu239=
ENST00000352909.8:c.717G= MANE Select	ENSP00000325951.4:p.Leu239=
NM_000360.3:c.717G=	NP_000351.2:p.Leu239=
NM_199292.2:c.810G=	NP_954986.2:p.Leu270=
NM_199292.3:c.810G=	NP_954986.2:p.Leu270=
NM_199293.2:c.798G=	NP_954987.2:p.Leu266=
NM_199293.3:c.798G=	NP_954987.2:p.Leu266=
ENST00000324155.8:c.*406G=	ENSP00000325831.3:n.*406G=
ENST00000333684.9:c.695+424G=	ENSP00000328814.6:n.695+424G=
ENST00000352909.7:c.717G=	ENSP00000325951.3:p.Leu239=
ENST00000381168.7:c.*437G=	ENSP00000370560.3:n.*437G=
ENST00000381175.5:c.798G=	ENSP00000370567.1:p.Leu266=
ENST00000381178.5:c.810G=	ENSP00000370571.1:p.Leu270=
ENST00000412076.1:c.135+424G=
ENST00000416223.5:c.136-243G=
ENST00000469226.1:n.846G=
ENST00000479437.5:n.266G=
XM_011520335.1:c.729G=	XP_011518637.1:p.Leu243=
XM_011520335.2:c.729G=	XP_011518637.1:p.Leu243=