Canonical Allele Identifier: CA2275551235

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521810G= , CM000679.2:g.75521810G=	GRCh38
NC_000017.10:g.73517891G= , CM000679.1:g.73517891G=	GRCh37
NC_000017.9:g.71029486G=	NCBI36
NG_013041.1:g.10283G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.729G= MANE Select	ENSP00000327487.6:p.Glu243=
ENST00000434205.8:c.426G=	ENSP00000406559.4:p.Glu142=
ENST00000545228.3:c.729G=	ENSP00000438169.3:p.Glu243=
ENST00000579449.2:n.528G=
ENST00000580013.6:n.932G=
ENST00000583818.2:c.783G=	ENSP00000461928.2:n.783G=
ENST00000679370.1:n.1310G=
ENST00000679429.1:c.*187G=	ENSP00000505403.1:n.*187G=
ENST00000679443.1:n.798G=
ENST00000679782.1:c.729G=	ENSP00000505995.1:p.Glu243=
ENST00000679919.1:n.798G=
ENST00000679928.1:c.*340G=	ENSP00000506071.1:n.*340G=
ENST00000680528.1:n.754G=
ENST00000680999.1:c.729G=	ENSP00000504984.1:p.Glu243=
ENST00000681282.1:c.758G=	ENSP00000506339.1:p.Arg253=
ENST00000333213.10:c.729G=	ENSP00000327487.6:p.Glu243=
ENST00000578415.1:c.689G=
ENST00000583173.5:c.459-197G=	ENSP00000463619.1:n.459-197G=
ENST00000583818.1:c.678G=	ENSP00000461928.1:n.678G=
NM_207346.2:c.729G=	NP_997229.2:p.Glu243=
XM_005257229.2:c.729G=	XP_005257286.1:p.Glu243=
XM_006721821.2:c.426G=	XP_006721884.1:p.Glu142=
XM_011524616.1:c.729G=	XP_011522918.1:p.Glu243=
XM_011524617.1:c.729G=	XP_011522919.1:p.Glu243=
XM_011524618.1:c.729G=	XP_011522920.1:p.Glu243=
XR_243646.2:n.759G=
XM_005257229.4:c.729G=	XP_005257286.1:p.Glu243=
XR_243646.4:n.765G=
NM_207346.3:c.729G= MANE Select	NP_997229.2:p.Glu243=