Canonical Allele Identifier: CA2275552566

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524325C= , CM000679.2:g.75524325C=	GRCh38
NC_000017.10:g.73520406C= , CM000679.1:g.73520406C=	GRCh37
NC_000017.9:g.71032001C=	NCBI36
NG_013041.1:g.12798C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1494C= MANE Select	ENSP00000327487.6:p.Val498=
ENST00000434205.8:c.1191C=	ENSP00000406559.4:p.Val397=
ENST00000545228.3:c.1682C=	ENSP00000438169.3:p.Ser561=
ENST00000577197.2:n.692C=
ENST00000579449.2:n.2234C=
ENST00000580013.6:n.2638C=
ENST00000679370.1:n.3016C=
ENST00000679429.1:c.*952C=	ENSP00000505403.1:n.*952C=
ENST00000679443.1:n.1563C=
ENST00000679782.1:c.*193C=	ENSP00000505995.1:n.*193C=
ENST00000679919.1:n.1765C=
ENST00000679928.1:c.*2046C=	ENSP00000506071.1:n.*2046C=
ENST00000680528.1:n.2460C=
ENST00000680999.1:c.1707C=	ENSP00000504984.1:p.Val569=
ENST00000681282.1:c.*1681C=	ENSP00000506339.1:n.*1681C=
ENST00000333213.10:c.1494C=	ENSP00000327487.6:p.Val498=
ENST00000545228.2:c.771C=
ENST00000577197.1:n.242C=
ENST00000579449.1:n.691C=
NM_207346.2:c.1494C=	NP_997229.2:p.Val498=
XM_005257229.2:c.1682C=	XP_005257286.1:p.Ser561=
XM_006721821.2:c.1379C=	XP_006721884.1:p.Ser460=
XM_011524616.1:c.1565C=	XP_011522918.1:p.Ser522=
XM_011524617.1:c.*76C=	XP_011522919.1:n.*76C=
XM_011524618.1:c.1377C=	XP_011522920.1:p.Val459=
XR_243646.2:n.1726C=
XM_005257229.4:c.1682C=	XP_005257286.1:p.Ser561=
XR_001753015.1:n.73G=
XR_001753016.1:n.74G=
XR_243646.4:n.1732C=
NM_207346.3:c.1494C= MANE Select	NP_997229.2:p.Val498=