Canonical Allele Identifier: CA2275551052

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521455G= , CM000679.2:g.75521455G=	GRCh38
NC_000017.10:g.73517536G= , CM000679.1:g.73517536G=	GRCh37
NC_000017.9:g.71029131G=	NCBI36
NG_013041.1:g.9928G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.568G= MANE Select	ENSP00000327487.6:p.Val190=
ENST00000434205.8:c.265G=	ENSP00000406559.4:p.Val89=
ENST00000545228.3:c.568G=	ENSP00000438169.3:p.Val190=
ENST00000579449.2:n.367G=
ENST00000580013.6:n.577G=
ENST00000583818.2:c.622G=	ENSP00000461928.2:n.622G=
ENST00000679370.1:n.955G=
ENST00000679429.1:c.*26G=	ENSP00000505403.1:n.*26G=
ENST00000679443.1:n.443G=
ENST00000679782.1:c.568G=	ENSP00000505995.1:p.Val190=
ENST00000679919.1:n.443G=
ENST00000679928.1:c.*179G=	ENSP00000506071.1:n.*179G=
ENST00000680528.1:n.593G=
ENST00000680999.1:c.568G=	ENSP00000504984.1:p.Val190=
ENST00000681282.1:c.568G=	ENSP00000506339.1:p.Val190=
ENST00000333213.10:c.568G=	ENSP00000327487.6:p.Val190=
ENST00000578415.1:c.528G=
ENST00000583173.5:c.403G=	ENSP00000463619.1:p.Val135=
ENST00000583818.1:c.517G=	ENSP00000461928.1:n.517G=
NM_207346.2:c.568G=	NP_997229.2:p.Val190=
XM_005257229.2:c.568G=	XP_005257286.1:p.Val190=
XM_006721821.2:c.265G=	XP_006721884.1:p.Val89=
XM_011524616.1:c.568G=	XP_011522918.1:p.Val190=
XM_011524617.1:c.568G=	XP_011522919.1:p.Val190=
XM_011524618.1:c.568G=	XP_011522920.1:p.Val190=
XR_243646.2:n.598G=
XM_005257229.4:c.568G=	XP_005257286.1:p.Val190=
XR_243646.4:n.604G=
NM_207346.3:c.568G= MANE Select	NP_997229.2:p.Val190=