Canonical Allele Identifier: CA2275551452

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522150G= , CM000679.2:g.75522150G=	GRCh38
NC_000017.10:g.73518231G= , CM000679.1:g.73518231G=	GRCh37
NC_000017.9:g.71029826G=	NCBI36
NG_013041.1:g.10623G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1069G= MANE Select	ENSP00000327487.6:p.Ala357=
ENST00000434205.8:c.766G=	ENSP00000406559.4:p.Ala256=
ENST00000545228.3:c.1069G=	ENSP00000438169.3:p.Ala357=
ENST00000579449.2:n.868G=
ENST00000580013.6:n.1272G=
ENST00000679370.1:n.1650G=
ENST00000679429.1:c.*527G=	ENSP00000505403.1:n.*527G=
ENST00000679443.1:n.1138G=
ENST00000679782.1:c.1069G=	ENSP00000505995.1:p.Ala357=
ENST00000679919.1:n.1138G=
ENST00000679928.1:c.*680G=	ENSP00000506071.1:n.*680G=
ENST00000680528.1:n.1094G=
ENST00000680999.1:c.1069G=	ENSP00000504984.1:p.Ala357=
ENST00000681282.1:c.*315G=	ENSP00000506339.1:n.*315G=
ENST00000333213.10:c.1069G=	ENSP00000327487.6:p.Ala357=
ENST00000545228.2:c.158G=
ENST00000583173.5:c.602G=	ENSP00000463619.1:n.602G=
NM_207346.2:c.1069G=	NP_997229.2:p.Ala357=
XM_005257229.2:c.1069G=	XP_005257286.1:p.Ala357=
XM_006721821.2:c.766G=	XP_006721884.1:p.Ala256=
XM_011524616.1:c.1069G=	XP_011522918.1:p.Ala357=
XM_011524617.1:c.1069G=	XP_011522919.1:p.Ala357=
XM_011524618.1:c.1069G=	XP_011522920.1:p.Ala357=
XR_243646.2:n.1099G=
XM_005257229.4:c.1069G=	XP_005257286.1:p.Ala357=
XR_243646.4:n.1105G=
NM_207346.3:c.1069G= MANE Select	NP_997229.2:p.Ala357=