Canonical Allele Identifier: CA1948004493

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166001C= , CM000673.2:g.2166001C=	GRCh38
NC_000011.9:g.2187231C= , CM000673.1:g.2187231C=	GRCh37
NC_000011.8:g.2143807C=	NCBI36
NG_007114.1:g.194G=
NG_008128.1:g.10805G=
NG_050578.1:g.209G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.1104+1G= MANE Select	NP_000351.2:n.1104+1G=
ENST00000352909.8:c.1104+1G= MANE Select	ENSP00000325951.4:n.1104+1G=
NM_000360.3:c.1104+1G=	NP_000351.2:n.1104+1G=
NM_199292.2:c.1197+1G=	NP_954986.2:n.1197+1G=
NM_199292.3:c.1197+1G=	NP_954986.2:n.1197+1G=
NM_199293.2:c.1185+1G=	NP_954987.2:n.1185+1G=
NM_199293.3:c.1185+1G=	NP_954987.2:n.1185+1G=
ENST00000324155.8:c.*793+1G=	ENSP00000325831.3:n.*793+1G=
ENST00000333684.9:c.822+1G=	ENSP00000328814.6:n.822+1G=
ENST00000352909.7:c.1104+1G=	ENSP00000325951.3:n.1104+1G=
ENST00000381175.5:c.1185+1G=	ENSP00000370567.1:n.1185+1G=
ENST00000381178.5:c.1197+1G=	ENSP00000370571.1:n.1197+1G=
ENST00000412076.1:c.262+1G=
ENST00000416223.5:c.398+1G=
ENST00000461172.1:n.691G=
ENST00000479437.5:n.653+1G=
XM_011520335.1:c.1116+1G=	XP_011518637.1:n.1116+1G=
XM_011520335.2:c.1116+1G=	XP_011518637.1:n.1116+1G=