Canonical Allele Identifier: CA1948005887

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166955A= , CM000673.2:g.2166955A=	GRCh38
NC_000011.9:g.2188185A= , CM000673.1:g.2188185A=	GRCh37
NC_000011.8:g.2144761A=	NCBI36
NG_008128.1:g.9851T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.773T= MANE Select	ENSP00000325951.4:p.Leu258=
ENST00000324155.8:c.*462T=	ENSP00000325831.3:n.*462T=
ENST00000333684.9:c.696-406T=	ENSP00000328814.6:n.696-406T=
ENST00000352909.7:c.773T=	ENSP00000325951.3:p.Leu258=
ENST00000381168.7:c.*493T=	ENSP00000370560.3:n.*493T=
ENST00000381175.5:c.854T=	ENSP00000370567.1:p.Leu285=
ENST00000381178.5:c.866T=	ENSP00000370571.1:p.Leu289=
ENST00000412076.1:c.136-406T=
ENST00000416223.5:c.136-187T=
ENST00000469226.1:n.902T=
ENST00000479437.5:n.322T=
NM_000360.3:c.773T=	NP_000351.2:p.Leu258=
NM_199292.2:c.866T=	NP_954986.2:p.Leu289=
NM_199293.2:c.854T=	NP_954987.2:p.Leu285=
XM_011520335.1:c.785T=	XP_011518637.1:p.Leu262=
XM_011520335.2:c.785T=	XP_011518637.1:p.Leu262=
NM_000360.4:c.773T= MANE Select	NP_000351.2:p.Leu258=
NM_199292.3:c.866T=	NP_954986.2:p.Leu289=
NM_199293.3:c.854T=	NP_954987.2:p.Leu285=