Canonical Allele Identifier: CA2275552538

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524270A= , CM000679.2:g.75524270A=	GRCh38
NC_000017.10:g.73520351A= , CM000679.1:g.73520351A=	GRCh37
NC_000017.9:g.71031946A=	NCBI36
NG_013041.1:g.12743A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1439A= MANE Select	ENSP00000327487.6:p.Glu480=
ENST00000434205.8:c.1136A=	ENSP00000406559.4:p.Glu379=
ENST00000545228.3:c.1627A=	ENSP00000438169.3:p.Ser543=
ENST00000577197.2:n.637A=
ENST00000579449.2:n.2179A=
ENST00000580013.6:n.2583A=
ENST00000679370.1:n.2961A=
ENST00000679429.1:c.*897A=	ENSP00000505403.1:n.*897A=
ENST00000679443.1:n.1508A=
ENST00000679782.1:c.*138A=	ENSP00000505995.1:n.*138A=
ENST00000679919.1:n.1710A=
ENST00000679928.1:c.*1991A=	ENSP00000506071.1:n.*1991A=
ENST00000680528.1:n.2405A=
ENST00000680999.1:c.1652A=	ENSP00000504984.1:p.Glu551=
ENST00000681282.1:c.*1626A=	ENSP00000506339.1:n.*1626A=
ENST00000333213.10:c.1439A=	ENSP00000327487.6:p.Glu480=
ENST00000545228.2:c.716A=
ENST00000577197.1:n.187A=
ENST00000579449.1:n.636A=
NM_207346.2:c.1439A=	NP_997229.2:p.Glu480=
XM_005257229.2:c.1627A=	XP_005257286.1:p.Ser543=
XM_006721821.2:c.1324A=	XP_006721884.1:p.Ser442=
XM_011524616.1:c.1510A=	XP_011522918.1:p.Ser504=
XM_011524617.1:c.*21A=	XP_011522919.1:n.*21A=
XM_011524618.1:c.1322A=	XP_011522920.1:p.Glu441=
XR_243646.2:n.1671A=
XM_005257229.4:c.1627A=	XP_005257286.1:p.Ser543=
XR_001753015.1:n.87+41T=
XR_001753016.1:n.88+41T=
XR_243646.4:n.1677A=
NM_207346.3:c.1439A= MANE Select	NP_997229.2:p.Glu480=