Canonical Allele Identifier: CA2275552551

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524295C= , CM000679.2:g.75524295C=	GRCh38
NC_000017.10:g.73520376C= , CM000679.1:g.73520376C=	GRCh37
NC_000017.9:g.71031971C=	NCBI36
NG_013041.1:g.12768C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1464C= MANE Select	ENSP00000327487.6:p.Leu488=
ENST00000434205.8:c.1161C=	ENSP00000406559.4:p.Leu387=
ENST00000545228.3:c.1652C=	ENSP00000438169.3:p.Ser551=
ENST00000577197.2:n.662C=
ENST00000579449.2:n.2204C=
ENST00000580013.6:n.2608C=
ENST00000679370.1:n.2986C=
ENST00000679429.1:c.*922C=	ENSP00000505403.1:n.*922C=
ENST00000679443.1:n.1533C=
ENST00000679782.1:c.*163C=	ENSP00000505995.1:n.*163C=
ENST00000679919.1:n.1735C=
ENST00000679928.1:c.*2016C=	ENSP00000506071.1:n.*2016C=
ENST00000680528.1:n.2430C=
ENST00000680999.1:c.1677C=	ENSP00000504984.1:p.Leu559=
ENST00000681282.1:c.*1651C=	ENSP00000506339.1:n.*1651C=
ENST00000333213.10:c.1464C=	ENSP00000327487.6:p.Leu488=
ENST00000545228.2:c.741C=
ENST00000577197.1:n.212C=
ENST00000579449.1:n.661C=
NM_207346.2:c.1464C=	NP_997229.2:p.Leu488=
XM_005257229.2:c.1652C=	XP_005257286.1:p.Ser551=
XM_006721821.2:c.1349C=	XP_006721884.1:p.Ser450=
XM_011524616.1:c.1535C=	XP_011522918.1:p.Ser512=
XM_011524617.1:c.*46C=	XP_011522919.1:n.*46C=
XM_011524618.1:c.1347C=	XP_011522920.1:p.Leu449=
XR_243646.2:n.1696C=
XM_005257229.4:c.1652C=	XP_005257286.1:p.Ser551=
XR_001753015.1:n.87+16G=
XR_001753016.1:n.88+16G=
XR_243646.4:n.1702C=
NM_207346.3:c.1464C= MANE Select	NP_997229.2:p.Leu488=