Canonical Allele Identifier: CA1948005823

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166924A= , CM000673.2:g.2166924A=	GRCh38
NC_000011.9:g.2188154A= , CM000673.1:g.2188154A=	GRCh37
NC_000011.8:g.2144730A=	NCBI36
NG_008128.1:g.9882T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.804T= MANE Select	ENSP00000325951.4:p.Asn268=
ENST00000324155.8:c.*493T=	ENSP00000325831.3:n.*493T=
ENST00000333684.9:c.696-375T=	ENSP00000328814.6:n.696-375T=
ENST00000352909.7:c.804T=	ENSP00000325951.3:p.Asn268=
ENST00000381168.7:c.*524T=	ENSP00000370560.3:n.*524T=
ENST00000381175.5:c.885T=	ENSP00000370567.1:p.Asn295=
ENST00000381178.5:c.897T=	ENSP00000370571.1:p.Asn299=
ENST00000412076.1:c.136-375T=
ENST00000416223.5:c.136-156T=
ENST00000469226.1:n.933T=
ENST00000479437.5:n.353T=
NM_000360.3:c.804T=	NP_000351.2:p.Asn268=
NM_199292.2:c.897T=	NP_954986.2:p.Asn299=
NM_199293.2:c.885T=	NP_954987.2:p.Asn295=
XM_011520335.1:c.816T=	XP_011518637.1:p.Asn272=
XM_011520335.2:c.816T=	XP_011518637.1:p.Asn272=
NM_000360.4:c.804T= MANE Select	NP_000351.2:p.Asn268=
NM_199292.3:c.897T=	NP_954986.2:p.Asn299=
NM_199293.3:c.885T=	NP_954987.2:p.Asn295=