Canonical Allele Identifier: CA2275549723

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75519044C= , CM000679.2:g.75519044C=	GRCh38
NC_000017.10:g.73515125C= , CM000679.1:g.73515125C=	GRCh37
NC_000017.9:g.71026720C=	NCBI36
NG_013041.1:g.7517C=
NG_033152.1:g.1540G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.518C= MANE Select	ENSP00000327487.6:p.Pro173=
ENST00000434205.8:c.215C=	ENSP00000406559.4:p.Pro72=
ENST00000545228.3:c.518C=	ENSP00000438169.3:p.Pro173=
ENST00000579449.2:n.317C=
ENST00000580013.6:n.527C=
ENST00000583818.2:c.518C=	ENSP00000461928.2:p.Pro173=
ENST00000679370.1:n.905C=
ENST00000679429.1:c.510C=	ENSP00000505403.1:p.Thr170=
ENST00000679443.1:n.393C=
ENST00000679782.1:c.518C=	ENSP00000505995.1:p.Pro173=
ENST00000679919.1:n.393C=
ENST00000679928.1:c.518C=	ENSP00000506071.1:p.Pro173=
ENST00000680528.1:n.543C=
ENST00000680999.1:c.518C=	ENSP00000504984.1:p.Pro173=
ENST00000681282.1:c.518C=	ENSP00000506339.1:p.Pro173=
ENST00000333213.10:c.518C=	ENSP00000327487.6:p.Pro173=
ENST00000434205.7:c.215C=	ENSP00000406559.3:p.Pro72=
ENST00000578415.1:c.478C=
ENST00000580013.5:n.535C=
ENST00000583173.5:c.353C=	ENSP00000463619.1:p.Pro118=
ENST00000583818.1:c.413C=	ENSP00000461928.1:p.Pro138=
NM_207346.2:c.518C=	NP_997229.2:p.Pro173=
XM_005257229.2:c.518C=	XP_005257286.1:p.Pro173=
XM_006721821.2:c.215C=	XP_006721884.1:p.Pro72=
XM_011524616.1:c.518C=	XP_011522918.1:p.Pro173=
XM_011524617.1:c.518C=	XP_011522919.1:p.Pro173=
XM_011524618.1:c.518C=	XP_011522920.1:p.Pro173=
XR_243646.2:n.548C=
XM_005257229.4:c.518C=	XP_005257286.1:p.Pro173=
XR_243646.4:n.554C=
NM_207346.3:c.518C= MANE Select	NP_997229.2:p.Pro173=