Canonical Allele Identifier: CA2275551368

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522029C= , CM000679.2:g.75522029C=	GRCh38
NC_000017.10:g.73518110C= , CM000679.1:g.73518110C=	GRCh37
NC_000017.9:g.71029705C=	NCBI36
NG_013041.1:g.10502C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.948C= MANE Select	ENSP00000327487.6:p.Arg316=
ENST00000434205.8:c.645C=	ENSP00000406559.4:p.Arg215=
ENST00000545228.3:c.948C=	ENSP00000438169.3:p.Arg316=
ENST00000579449.2:n.747C=
ENST00000580013.6:n.1151C=
ENST00000679370.1:n.1529C=
ENST00000679429.1:c.*406C=	ENSP00000505403.1:n.*406C=
ENST00000679443.1:n.1017C=
ENST00000679782.1:c.948C=	ENSP00000505995.1:p.Arg316=
ENST00000679919.1:n.1017C=
ENST00000679928.1:c.*559C=	ENSP00000506071.1:n.*559C=
ENST00000680528.1:n.973C=
ENST00000680999.1:c.948C=	ENSP00000504984.1:p.Arg316=
ENST00000681282.1:c.*194C=	ENSP00000506339.1:n.*194C=
ENST00000333213.10:c.948C=	ENSP00000327487.6:p.Arg316=
ENST00000545228.2:c.37C=
ENST00000578415.1:c.908C=
ENST00000583173.5:c.481C=	ENSP00000463619.1:p.Arg161=
NM_207346.2:c.948C=	NP_997229.2:p.Arg316=
XM_005257229.2:c.948C=	XP_005257286.1:p.Arg316=
XM_006721821.2:c.645C=	XP_006721884.1:p.Arg215=
XM_011524616.1:c.948C=	XP_011522918.1:p.Arg316=
XM_011524617.1:c.948C=	XP_011522919.1:p.Arg316=
XM_011524618.1:c.948C=	XP_011522920.1:p.Arg316=
XR_243646.2:n.978C=
XM_005257229.4:c.948C=	XP_005257286.1:p.Arg316=
XR_243646.4:n.984C=
NM_207346.3:c.948C= MANE Select	NP_997229.2:p.Arg316=