Canonical Allele Identifier: CA1948004244

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165727G= , CM000673.2:g.2165727G=	GRCh38
NC_000011.9:g.2186957G= , CM000673.1:g.2186957G=	GRCh37
NC_000011.8:g.2143533G=	NCBI36
NG_007114.1:g.468C=
NG_008128.1:g.11079C=
NG_050578.1:g.483C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.1141C= MANE Select	NP_000351.2:p.Gln381=
ENST00000352909.8:c.1141C= MANE Select	ENSP00000325951.4:p.Gln381=
NM_000360.3:c.1141C=	NP_000351.2:p.Gln381=
NM_199292.2:c.1234C=	NP_954986.2:p.Gln412=
NM_199292.3:c.1234C=	NP_954986.2:p.Gln412=
NM_199293.2:c.1222C=	NP_954987.2:p.Gln408=
NM_199293.3:c.1222C=	NP_954987.2:p.Gln408=
ENST00000324155.8:c.*830C=	ENSP00000325831.3:n.*830C=
ENST00000333684.9:c.859C=	ENSP00000328814.6:p.Gln287=
ENST00000352909.7:c.1141C=	ENSP00000325951.3:p.Gln381=
ENST00000381175.5:c.1222C=	ENSP00000370567.1:p.Gln408=
ENST00000381178.5:c.1234C=	ENSP00000370571.1:p.Gln412=
ENST00000412076.1:c.299C=
ENST00000416223.5:c.435C=
ENST00000479437.5:n.690C=
XM_011520335.1:c.1153C=	XP_011518637.1:p.Gln385=
XM_011520335.2:c.1153C=	XP_011518637.1:p.Gln385=