Canonical Allele Identifier: CA2275551360

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522021C= , CM000679.2:g.75522021C=	GRCh38
NC_000017.10:g.73518102C= , CM000679.1:g.73518102C=	GRCh37
NC_000017.9:g.71029697C=	NCBI36
NG_013041.1:g.10494C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.940C= MANE Select	ENSP00000327487.6:p.Leu314=
ENST00000434205.8:c.637C=	ENSP00000406559.4:p.Leu213=
ENST00000545228.3:c.940C=	ENSP00000438169.3:p.Leu314=
ENST00000579449.2:n.739C=
ENST00000580013.6:n.1143C=
ENST00000679370.1:n.1521C=
ENST00000679429.1:c.*398C=	ENSP00000505403.1:n.*398C=
ENST00000679443.1:n.1009C=
ENST00000679782.1:c.940C=	ENSP00000505995.1:p.Leu314=
ENST00000679919.1:n.1009C=
ENST00000679928.1:c.*551C=	ENSP00000506071.1:n.*551C=
ENST00000680528.1:n.965C=
ENST00000680999.1:c.940C=	ENSP00000504984.1:p.Leu314=
ENST00000681282.1:c.*186C=	ENSP00000506339.1:n.*186C=
ENST00000333213.10:c.940C=	ENSP00000327487.6:p.Leu314=
ENST00000545228.2:c.29C=
ENST00000578415.1:c.900C=
ENST00000583173.5:c.473C=	ENSP00000463619.1:p.Pro158=
NM_207346.2:c.940C=	NP_997229.2:p.Leu314=
XM_005257229.2:c.940C=	XP_005257286.1:p.Leu314=
XM_006721821.2:c.637C=	XP_006721884.1:p.Leu213=
XM_011524616.1:c.940C=	XP_011522918.1:p.Leu314=
XM_011524617.1:c.940C=	XP_011522919.1:p.Leu314=
XM_011524618.1:c.940C=	XP_011522920.1:p.Leu314=
XR_243646.2:n.970C=
XM_005257229.4:c.940C=	XP_005257286.1:p.Leu314=
XR_243646.4:n.976C=
NM_207346.3:c.940C= MANE Select	NP_997229.2:p.Leu314=