Canonical Allele Identifier: CA2275551401

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522072G= , CM000679.2:g.75522072G=	GRCh38
NC_000017.10:g.73518153G= , CM000679.1:g.73518153G=	GRCh37
NC_000017.9:g.71029748G=	NCBI36
NG_013041.1:g.10545G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.991G= MANE Select	ENSP00000327487.6:p.Glu331=
ENST00000434205.8:c.688G=	ENSP00000406559.4:p.Glu230=
ENST00000545228.3:c.991G=	ENSP00000438169.3:p.Glu331=
ENST00000579449.2:n.790G=
ENST00000580013.6:n.1194G=
ENST00000679370.1:n.1572G=
ENST00000679429.1:c.*449G=	ENSP00000505403.1:n.*449G=
ENST00000679443.1:n.1060G=
ENST00000679782.1:c.991G=	ENSP00000505995.1:p.Glu331=
ENST00000679919.1:n.1060G=
ENST00000679928.1:c.*602G=	ENSP00000506071.1:n.*602G=
ENST00000680528.1:n.1016G=
ENST00000680999.1:c.991G=	ENSP00000504984.1:p.Glu331=
ENST00000681282.1:c.*237G=	ENSP00000506339.1:n.*237G=
ENST00000333213.10:c.991G=	ENSP00000327487.6:p.Glu331=
ENST00000545228.2:c.80G=
ENST00000578415.1:c.951G=
ENST00000583173.5:c.524G=	ENSP00000463619.1:p.Gly175=
NM_207346.2:c.991G=	NP_997229.2:p.Glu331=
XM_005257229.2:c.991G=	XP_005257286.1:p.Glu331=
XM_006721821.2:c.688G=	XP_006721884.1:p.Glu230=
XM_011524616.1:c.991G=	XP_011522918.1:p.Glu331=
XM_011524617.1:c.991G=	XP_011522919.1:p.Glu331=
XM_011524618.1:c.991G=	XP_011522920.1:p.Glu331=
XR_243646.2:n.1021G=
XM_005257229.4:c.991G=	XP_005257286.1:p.Glu331=
XR_243646.4:n.1027G=
NM_207346.3:c.991G= MANE Select	NP_997229.2:p.Glu331=