Canonical Allele Identifier: CA2275552549

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524292C= , CM000679.2:g.75524292C=	GRCh38
NC_000017.10:g.73520373C= , CM000679.1:g.73520373C=	GRCh37
NC_000017.9:g.71031968C=	NCBI36
NG_013041.1:g.12765C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1461C= MANE Select	ENSP00000327487.6:p.Ser487=
ENST00000434205.8:c.1158C=	ENSP00000406559.4:p.Ser386=
ENST00000545228.3:c.1649C=	ENSP00000438169.3:p.Ala550=
ENST00000577197.2:n.659C=
ENST00000579449.2:n.2201C=
ENST00000580013.6:n.2605C=
ENST00000679370.1:n.2983C=
ENST00000679429.1:c.*919C=	ENSP00000505403.1:n.*919C=
ENST00000679443.1:n.1530C=
ENST00000679782.1:c.*160C=	ENSP00000505995.1:n.*160C=
ENST00000679919.1:n.1732C=
ENST00000679928.1:c.*2013C=	ENSP00000506071.1:n.*2013C=
ENST00000680528.1:n.2427C=
ENST00000680999.1:c.1674C=	ENSP00000504984.1:p.Ser558=
ENST00000681282.1:c.*1648C=	ENSP00000506339.1:n.*1648C=
ENST00000333213.10:c.1461C=	ENSP00000327487.6:p.Ser487=
ENST00000545228.2:c.738C=
ENST00000577197.1:n.209C=
ENST00000579449.1:n.658C=
NM_207346.2:c.1461C=	NP_997229.2:p.Ser487=
XM_005257229.2:c.1649C=	XP_005257286.1:p.Ala550=
XM_006721821.2:c.1346C=	XP_006721884.1:p.Ala449=
XM_011524616.1:c.1532C=	XP_011522918.1:p.Ala511=
XM_011524617.1:c.*43C=	XP_011522919.1:n.*43C=
XM_011524618.1:c.1344C=	XP_011522920.1:p.Ser448=
XR_243646.2:n.1693C=
XM_005257229.4:c.1649C=	XP_005257286.1:p.Ala550=
XR_001753015.1:n.87+19G=
XR_001753016.1:n.88+19G=
XR_243646.4:n.1699C=
NM_207346.3:c.1461C= MANE Select	NP_997229.2:p.Ser487=