Canonical Allele Identifier: CA2275552554

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524300G= , CM000679.2:g.75524300G=	GRCh38
NC_000017.10:g.73520381G= , CM000679.1:g.73520381G=	GRCh37
NC_000017.9:g.71031976G=	NCBI36
NG_013041.1:g.12773G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1469G= MANE Select	ENSP00000327487.6:p.Arg490=
ENST00000434205.8:c.1166G=	ENSP00000406559.4:p.Arg389=
ENST00000545228.3:c.1657G=	ENSP00000438169.3:p.Gly553=
ENST00000577197.2:n.667G=
ENST00000579449.2:n.2209G=
ENST00000580013.6:n.2613G=
ENST00000679370.1:n.2991G=
ENST00000679429.1:c.*927G=	ENSP00000505403.1:n.*927G=
ENST00000679443.1:n.1538G=
ENST00000679782.1:c.*168G=	ENSP00000505995.1:n.*168G=
ENST00000679919.1:n.1740G=
ENST00000679928.1:c.*2021G=	ENSP00000506071.1:n.*2021G=
ENST00000680528.1:n.2435G=
ENST00000680999.1:c.1682G=	ENSP00000504984.1:p.Arg561=
ENST00000681282.1:c.*1656G=	ENSP00000506339.1:n.*1656G=
ENST00000333213.10:c.1469G=	ENSP00000327487.6:p.Arg490=
ENST00000545228.2:c.746G=
ENST00000577197.1:n.217G=
ENST00000579449.1:n.666G=
NM_207346.2:c.1469G=	NP_997229.2:p.Arg490=
XM_005257229.2:c.1657G=	XP_005257286.1:p.Gly553=
XM_006721821.2:c.1354G=	XP_006721884.1:p.Gly452=
XM_011524616.1:c.1540G=	XP_011522918.1:p.Gly514=
XM_011524617.1:c.*51G=	XP_011522919.1:n.*51G=
XM_011524618.1:c.1352G=	XP_011522920.1:p.Arg451=
XR_243646.2:n.1701G=
XM_005257229.4:c.1657G=	XP_005257286.1:p.Gly553=
XR_001753015.1:n.87+11C=
XR_001753016.1:n.88+11C=
XR_243646.4:n.1707G=
NM_207346.3:c.1469G= MANE Select	NP_997229.2:p.Arg490=