Canonical Allele Identifier: CA2275551376

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522044G= , CM000679.2:g.75522044G=	GRCh38
NC_000017.10:g.73518125G= , CM000679.1:g.73518125G=	GRCh37
NC_000017.9:g.71029720G=	NCBI36
NG_013041.1:g.10517G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.963G= MANE Select	ENSP00000327487.6:p.Glu321=
ENST00000434205.8:c.660G=	ENSP00000406559.4:p.Glu220=
ENST00000545228.3:c.963G=	ENSP00000438169.3:p.Glu321=
ENST00000579449.2:n.762G=
ENST00000580013.6:n.1166G=
ENST00000679370.1:n.1544G=
ENST00000679429.1:c.*421G=	ENSP00000505403.1:n.*421G=
ENST00000679443.1:n.1032G=
ENST00000679782.1:c.963G=	ENSP00000505995.1:p.Glu321=
ENST00000679919.1:n.1032G=
ENST00000679928.1:c.*574G=	ENSP00000506071.1:n.*574G=
ENST00000680528.1:n.988G=
ENST00000680999.1:c.963G=	ENSP00000504984.1:p.Glu321=
ENST00000681282.1:c.*209G=	ENSP00000506339.1:n.*209G=
ENST00000333213.10:c.963G=	ENSP00000327487.6:p.Glu321=
ENST00000545228.2:c.52G=
ENST00000578415.1:c.923G=
ENST00000583173.5:c.496G=	ENSP00000463619.1:p.Ala166=
NM_207346.2:c.963G=	NP_997229.2:p.Glu321=
XM_005257229.2:c.963G=	XP_005257286.1:p.Glu321=
XM_006721821.2:c.660G=	XP_006721884.1:p.Glu220=
XM_011524616.1:c.963G=	XP_011522918.1:p.Glu321=
XM_011524617.1:c.963G=	XP_011522919.1:p.Glu321=
XM_011524618.1:c.963G=	XP_011522920.1:p.Glu321=
XR_243646.2:n.993G=
XM_005257229.4:c.963G=	XP_005257286.1:p.Glu321=
XR_243646.4:n.999G=
NM_207346.3:c.963G= MANE Select	NP_997229.2:p.Glu321=