Canonical Allele Identifier: CA2275552539

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524274T= , CM000679.2:g.75524274T=	GRCh38
NC_000017.10:g.73520355T= , CM000679.1:g.73520355T=	GRCh37
NC_000017.9:g.71031950T=	NCBI36
NG_013041.1:g.12747T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1443T= MANE Select	ENSP00000327487.6:p.Pro481=
ENST00000434205.8:c.1140T=	ENSP00000406559.4:p.Pro380=
ENST00000545228.3:c.1631T=	ENSP00000438169.3:p.Leu544=
ENST00000577197.2:n.641T=
ENST00000579449.2:n.2183T=
ENST00000580013.6:n.2587T=
ENST00000679370.1:n.2965T=
ENST00000679429.1:c.*901T=	ENSP00000505403.1:n.*901T=
ENST00000679443.1:n.1512T=
ENST00000679782.1:c.*142T=	ENSP00000505995.1:n.*142T=
ENST00000679919.1:n.1714T=
ENST00000679928.1:c.*1995T=	ENSP00000506071.1:n.*1995T=
ENST00000680528.1:n.2409T=
ENST00000680999.1:c.1656T=	ENSP00000504984.1:p.Pro552=
ENST00000681282.1:c.*1630T=	ENSP00000506339.1:n.*1630T=
ENST00000333213.10:c.1443T=	ENSP00000327487.6:p.Pro481=
ENST00000545228.2:c.720T=
ENST00000577197.1:n.191T=
ENST00000579449.1:n.640T=
NM_207346.2:c.1443T=	NP_997229.2:p.Pro481=
XM_005257229.2:c.1631T=	XP_005257286.1:p.Leu544=
XM_006721821.2:c.1328T=	XP_006721884.1:p.Leu443=
XM_011524616.1:c.1514T=	XP_011522918.1:p.Leu505=
XM_011524617.1:c.*25T=	XP_011522919.1:n.*25T=
XM_011524618.1:c.1326T=	XP_011522920.1:p.Pro442=
XR_243646.2:n.1675T=
XM_005257229.4:c.1631T=	XP_005257286.1:p.Leu544=
XR_001753015.1:n.87+37A=
XR_001753016.1:n.88+37A=
XR_243646.4:n.1681T=
NM_207346.3:c.1443T= MANE Select	NP_997229.2:p.Pro481=