Canonical Allele Identifier: CA2275552577

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524350C= , CM000679.2:g.75524350C=	GRCh38
NC_000017.10:g.73520431C= , CM000679.1:g.73520431C=	GRCh37
NC_000017.9:g.71032026C=	NCBI36
NG_013041.1:g.12823C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1519C= MANE Select	ENSP00000327487.6:p.His507=
ENST00000434205.8:c.1216C=	ENSP00000406559.4:p.His406=
ENST00000545228.3:c.*18C=	ENSP00000438169.3:n.*18C=
ENST00000577197.2:n.717C=
ENST00000579449.2:n.2259C=
ENST00000580013.6:n.2663C=
ENST00000679370.1:n.3041C=
ENST00000679429.1:c.*977C=	ENSP00000505403.1:n.*977C=
ENST00000679443.1:n.1588C=
ENST00000679782.1:c.*218C=	ENSP00000505995.1:n.*218C=
ENST00000679919.1:n.1790C=
ENST00000679928.1:c.*2071C=	ENSP00000506071.1:n.*2071C=
ENST00000680528.1:n.2485C=
ENST00000680999.1:c.1732C=	ENSP00000504984.1:p.His578=
ENST00000681282.1:c.*1706C=	ENSP00000506339.1:n.*1706C=
ENST00000333213.10:c.1519C=	ENSP00000327487.6:p.His507=
ENST00000545228.2:c.796C=
ENST00000577197.1:n.267C=
ENST00000579449.1:n.716C=
NM_207346.2:c.1519C=	NP_997229.2:p.His507=
XM_005257229.2:c.*18C=	XP_005257286.1:n.*18C=
XM_006721821.2:c.*18C=	XP_006721884.1:n.*18C=
XM_011524616.1:c.*18C=	XP_011522918.1:n.*18C=
XM_011524617.1:c.*101C=	XP_011522919.1:n.*101C=
XM_011524618.1:c.1402C=	XP_011522920.1:p.His468=
XR_243646.2:n.1751C=
XM_005257229.4:c.*18C=	XP_005257286.1:n.*18C=
XR_001753015.1:n.48G=
XR_001753016.1:n.49G=
XR_243646.4:n.1757C=
NM_207346.3:c.1519C= MANE Select	NP_997229.2:p.His507=