Canonical Allele Identifier: CA2275552578

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524351A= , CM000679.2:g.75524351A=	GRCh38
NC_000017.10:g.73520432A= , CM000679.1:g.73520432A=	GRCh37
NC_000017.9:g.71032027A=	NCBI36
NG_013041.1:g.12824A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1520A= MANE Select	ENSP00000327487.6:p.His507=
ENST00000434205.8:c.1217A=	ENSP00000406559.4:p.His406=
ENST00000545228.3:c.*19A=	ENSP00000438169.3:n.*19A=
ENST00000577197.2:n.718A=
ENST00000579449.2:n.2260A=
ENST00000580013.6:n.2664A=
ENST00000679370.1:n.3042A=
ENST00000679429.1:c.*978A=	ENSP00000505403.1:n.*978A=
ENST00000679443.1:n.1589A=
ENST00000679782.1:c.*219A=	ENSP00000505995.1:n.*219A=
ENST00000679919.1:n.1791A=
ENST00000679928.1:c.*2072A=	ENSP00000506071.1:n.*2072A=
ENST00000680528.1:n.2486A=
ENST00000680999.1:c.1733A=	ENSP00000504984.1:p.His578=
ENST00000681282.1:c.*1707A=	ENSP00000506339.1:n.*1707A=
ENST00000333213.10:c.1520A=	ENSP00000327487.6:p.His507=
ENST00000545228.2:c.797A=
ENST00000577197.1:n.268A=
ENST00000579449.1:n.717A=
NM_207346.2:c.1520A=	NP_997229.2:p.His507=
XM_005257229.2:c.*19A=	XP_005257286.1:n.*19A=
XM_006721821.2:c.*19A=	XP_006721884.1:n.*19A=
XM_011524616.1:c.*19A=	XP_011522918.1:n.*19A=
XM_011524618.1:c.1403A=	XP_011522920.1:p.His468=
XR_243646.2:n.1752A=
XM_005257229.4:c.*19A=	XP_005257286.1:n.*19A=
XR_001753015.1:n.47T=
XR_001753016.1:n.48T=
XR_243646.4:n.1758A=
NM_207346.3:c.1520A= MANE Select	NP_997229.2:p.His507=