Canonical Allele Identifier: CA2275551214

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521776C= , CM000679.2:g.75521776C=	GRCh38
NC_000017.10:g.73517857C= , CM000679.1:g.73517857C=	GRCh37
NC_000017.9:g.71029452C=	NCBI36
NG_013041.1:g.10249C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.695C= MANE Select	ENSP00000327487.6:p.Pro232=
ENST00000434205.8:c.392C=	ENSP00000406559.4:p.Pro131=
ENST00000545228.3:c.695C=	ENSP00000438169.3:p.Pro232=
ENST00000579449.2:n.494C=
ENST00000580013.6:n.898C=
ENST00000583818.2:c.749C=	ENSP00000461928.2:n.749C=
ENST00000679370.1:n.1276C=
ENST00000679429.1:c.*153C=	ENSP00000505403.1:n.*153C=
ENST00000679443.1:n.764C=
ENST00000679782.1:c.695C=	ENSP00000505995.1:p.Pro232=
ENST00000679919.1:n.764C=
ENST00000679928.1:c.*306C=	ENSP00000506071.1:n.*306C=
ENST00000680528.1:n.720C=
ENST00000680999.1:c.695C=	ENSP00000504984.1:p.Pro232=
ENST00000681282.1:c.724C=	ENSP00000506339.1:p.Leu242=
ENST00000333213.10:c.695C=	ENSP00000327487.6:p.Pro232=
ENST00000578415.1:c.655C=
ENST00000583173.5:c.459-231C=	ENSP00000463619.1:n.459-231C=
ENST00000583818.1:c.644C=	ENSP00000461928.1:n.644C=
NM_207346.2:c.695C=	NP_997229.2:p.Pro232=
XM_005257229.2:c.695C=	XP_005257286.1:p.Pro232=
XM_006721821.2:c.392C=	XP_006721884.1:p.Pro131=
XM_011524616.1:c.695C=	XP_011522918.1:p.Pro232=
XM_011524617.1:c.695C=	XP_011522919.1:p.Pro232=
XM_011524618.1:c.695C=	XP_011522920.1:p.Pro232=
XR_243646.2:n.725C=
XM_005257229.4:c.695C=	XP_005257286.1:p.Pro232=
XR_243646.4:n.731C=
NM_207346.3:c.695C= MANE Select	NP_997229.2:p.Pro232=