Canonical Allele Identifier: CA2275552569

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524328T= , CM000679.2:g.75524328T=	GRCh38
NC_000017.10:g.73520409T= , CM000679.1:g.73520409T=	GRCh37
NC_000017.9:g.71032004T=	NCBI36
NG_013041.1:g.12801T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1497T= MANE Select	ENSP00000327487.6:p.Pro499=
ENST00000434205.8:c.1194T=	ENSP00000406559.4:p.Pro398=
ENST00000545228.3:c.1685T=	ENSP00000438169.3:p.Leu562=
ENST00000577197.2:n.695T=
ENST00000579449.2:n.2237T=
ENST00000580013.6:n.2641T=
ENST00000679370.1:n.3019T=
ENST00000679429.1:c.*955T=	ENSP00000505403.1:n.*955T=
ENST00000679443.1:n.1566T=
ENST00000679782.1:c.*196T=	ENSP00000505995.1:n.*196T=
ENST00000679919.1:n.1768T=
ENST00000679928.1:c.*2049T=	ENSP00000506071.1:n.*2049T=
ENST00000680528.1:n.2463T=
ENST00000680999.1:c.1710T=	ENSP00000504984.1:p.Pro570=
ENST00000681282.1:c.*1684T=	ENSP00000506339.1:n.*1684T=
ENST00000333213.10:c.1497T=	ENSP00000327487.6:p.Pro499=
ENST00000545228.2:c.774T=
ENST00000577197.1:n.245T=
ENST00000579449.1:n.694T=
NM_207346.2:c.1497T=	NP_997229.2:p.Pro499=
XM_005257229.2:c.1685T=	XP_005257286.1:p.Leu562=
XM_006721821.2:c.1382T=	XP_006721884.1:p.Leu461=
XM_011524616.1:c.1568T=	XP_011522918.1:p.Leu523=
XM_011524617.1:c.*79T=	XP_011522919.1:n.*79T=
XM_011524618.1:c.1380T=	XP_011522920.1:p.Pro460=
XR_243646.2:n.1729T=
XM_005257229.4:c.1685T=	XP_005257286.1:p.Leu562=
XR_001753015.1:n.70A=
XR_001753016.1:n.71A=
XR_243646.4:n.1735T=
NM_207346.3:c.1497T= MANE Select	NP_997229.2:p.Pro499=