Canonical Allele Identifier: CA2275551232

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521805G= , CM000679.2:g.75521805G=	GRCh38
NC_000017.10:g.73517886G= , CM000679.1:g.73517886G=	GRCh37
NC_000017.9:g.71029481G=	NCBI36
NG_013041.1:g.10278G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.724G= MANE Select	ENSP00000327487.6:p.Glu242=
ENST00000434205.8:c.421G=	ENSP00000406559.4:p.Glu141=
ENST00000545228.3:c.724G=	ENSP00000438169.3:p.Glu242=
ENST00000579449.2:n.523G=
ENST00000580013.6:n.927G=
ENST00000583818.2:c.778G=	ENSP00000461928.2:n.778G=
ENST00000679370.1:n.1305G=
ENST00000679429.1:c.*182G=	ENSP00000505403.1:n.*182G=
ENST00000679443.1:n.793G=
ENST00000679782.1:c.724G=	ENSP00000505995.1:p.Glu242=
ENST00000679919.1:n.793G=
ENST00000679928.1:c.*335G=	ENSP00000506071.1:n.*335G=
ENST00000680528.1:n.749G=
ENST00000680999.1:c.724G=	ENSP00000504984.1:p.Glu242=
ENST00000681282.1:c.753G=	ENSP00000506339.1:p.Gln251=
ENST00000333213.10:c.724G=	ENSP00000327487.6:p.Glu242=
ENST00000578415.1:c.684G=
ENST00000583173.5:c.459-202G=	ENSP00000463619.1:n.459-202G=
ENST00000583818.1:c.673G=	ENSP00000461928.1:n.673G=
NM_207346.2:c.724G=	NP_997229.2:p.Glu242=
XM_005257229.2:c.724G=	XP_005257286.1:p.Glu242=
XM_006721821.2:c.421G=	XP_006721884.1:p.Glu141=
XM_011524616.1:c.724G=	XP_011522918.1:p.Glu242=
XM_011524617.1:c.724G=	XP_011522919.1:p.Glu242=
XM_011524618.1:c.724G=	XP_011522920.1:p.Glu242=
XR_243646.2:n.754G=
XM_005257229.4:c.724G=	XP_005257286.1:p.Glu242=
XR_243646.4:n.760G=
NM_207346.3:c.724G= MANE Select	NP_997229.2:p.Glu242=