Canonical Allele Identifier: CA2275552558

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524311C= , CM000679.2:g.75524311C=	GRCh38
NC_000017.10:g.73520392C= , CM000679.1:g.73520392C=	GRCh37
NC_000017.9:g.71031987C=	NCBI36
NG_013041.1:g.12784C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1480C= MANE Select	ENSP00000327487.6:p.Gln494=
ENST00000434205.8:c.1177C=	ENSP00000406559.4:p.Gln393=
ENST00000545228.3:c.1668C=	ENSP00000438169.3:p.Thr556=
ENST00000577197.2:n.678C=
ENST00000579449.2:n.2220C=
ENST00000580013.6:n.2624C=
ENST00000679370.1:n.3002C=
ENST00000679429.1:c.*938C=	ENSP00000505403.1:n.*938C=
ENST00000679443.1:n.1549C=
ENST00000679782.1:c.*179C=	ENSP00000505995.1:n.*179C=
ENST00000679919.1:n.1751C=
ENST00000679928.1:c.*2032C=	ENSP00000506071.1:n.*2032C=
ENST00000680528.1:n.2446C=
ENST00000680999.1:c.1693C=	ENSP00000504984.1:p.Gln565=
ENST00000681282.1:c.*1667C=	ENSP00000506339.1:n.*1667C=
ENST00000333213.10:c.1480C=	ENSP00000327487.6:p.Gln494=
ENST00000545228.2:c.757C=
ENST00000577197.1:n.228C=
ENST00000579449.1:n.677C=
NM_207346.2:c.1480C=	NP_997229.2:p.Gln494=
XM_005257229.2:c.1668C=	XP_005257286.1:p.Thr556=
XM_006721821.2:c.1365C=	XP_006721884.1:p.Thr455=
XM_011524616.1:c.1551C=	XP_011522918.1:p.Thr517=
XM_011524617.1:c.*62C=	XP_011522919.1:n.*62C=
XM_011524618.1:c.1363C=	XP_011522920.1:p.Gln455=
XR_243646.2:n.1712C=
XM_005257229.4:c.1668C=	XP_005257286.1:p.Thr556=
XR_001753015.1:n.87G=
XR_001753016.1:n.88G=
XR_243646.4:n.1718C=
NM_207346.3:c.1480C= MANE Select	NP_997229.2:p.Gln494=