Canonical Allele Identifier: CA2275551305

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521929G= , CM000679.2:g.75521929G=	GRCh38
NC_000017.10:g.73518010G= , CM000679.1:g.73518010G=	GRCh37
NC_000017.9:g.71029605G=	NCBI36
NG_013041.1:g.10402G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.848G= MANE Select	ENSP00000327487.6:p.Arg283=
ENST00000434205.8:c.545G=	ENSP00000406559.4:p.Arg182=
ENST00000545228.3:c.848G=	ENSP00000438169.3:p.Arg283=
ENST00000579449.2:n.647G=
ENST00000580013.6:n.1051G=
ENST00000679370.1:n.1429G=
ENST00000679429.1:c.*306G=	ENSP00000505403.1:n.*306G=
ENST00000679443.1:n.917G=
ENST00000679782.1:c.848G=	ENSP00000505995.1:p.Arg283=
ENST00000679919.1:n.917G=
ENST00000679928.1:c.*459G=	ENSP00000506071.1:n.*459G=
ENST00000680528.1:n.873G=
ENST00000680999.1:c.848G=	ENSP00000504984.1:p.Arg283=
ENST00000681282.1:c.*94G=	ENSP00000506339.1:n.*94G=
ENST00000333213.10:c.848G=	ENSP00000327487.6:p.Arg283=
ENST00000578415.1:c.808G=
ENST00000583173.5:c.459-78G=	ENSP00000463619.1:n.459-78G=
NM_207346.2:c.848G=	NP_997229.2:p.Arg283=
XM_005257229.2:c.848G=	XP_005257286.1:p.Arg283=
XM_006721821.2:c.545G=	XP_006721884.1:p.Arg182=
XM_011524616.1:c.848G=	XP_011522918.1:p.Arg283=
XM_011524617.1:c.848G=	XP_011522919.1:p.Arg283=
XM_011524618.1:c.848G=	XP_011522920.1:p.Arg283=
XR_243646.2:n.878G=
XM_005257229.4:c.848G=	XP_005257286.1:p.Arg283=
XR_243646.4:n.884G=
NM_207346.3:c.848G= MANE Select	NP_997229.2:p.Arg283=