Canonical Allele Identifier: CA401031075

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520359C>T (hg19) ; chr17:g.75524278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524278C>T , CM000679.2:g.75524278C>T	GRCh38
NC_000017.10:g.73520359C>T , CM000679.1:g.73520359C>T	GRCh37
NC_000017.9:g.71031954C>T	NCBI36
NG_013041.1:g.12751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1447C>T MANE Select	ENSP00000327487.6:p.Pro483Ser
ENST00000434205.8:c.1144C>T	ENSP00000406559.4:p.Pro382Ser
ENST00000545228.3:c.1635C>T	ENSP00000438169.3:p.Ser545=
ENST00000577197.2:n.645C>T
ENST00000579449.2:n.2187C>T
ENST00000580013.6:n.2591C>T
ENST00000679370.1:n.2969C>T
ENST00000679429.1:c.*905C>T	ENSP00000505403.1:n.*905C>T
ENST00000679443.1:n.1516C>T
ENST00000679782.1:c.*146C>T	ENSP00000505995.1:n.*146C>T
ENST00000679919.1:n.1718C>T
ENST00000679928.1:c.*1999C>T	ENSP00000506071.1:n.*1999C>T
ENST00000680528.1:n.2413C>T
ENST00000680999.1:c.1660C>T	ENSP00000504984.1:p.Pro554Ser
ENST00000681282.1:c.*1634C>T	ENSP00000506339.1:n.*1634C>T
ENST00000333213.10:c.1447C>T	ENSP00000327487.6:p.Pro483Ser
ENST00000545228.2:c.724C>T
ENST00000577197.1:n.195C>T
ENST00000579449.1:n.644C>T
NM_207346.2:c.1447C>T	NP_997229.2:p.Pro483Ser
XM_005257229.2:c.1635C>T	XP_005257286.1:p.Ser545=
XM_006721821.2:c.1332C>T	XP_006721884.1:p.Ser444=
XM_011524616.1:c.1518C>T	XP_011522918.1:p.Ser506=
XM_011524617.1:c.*29C>T	XP_011522919.1:n.*29C>T
XM_011524618.1:c.1330C>T	XP_011522920.1:p.Pro444Ser
XR_243646.2:n.1679C>T
XM_005257229.4:c.1635C>T	XP_005257286.1:p.Ser545=
XR_001753015.1:n.87+33G>A
XR_001753016.1:n.88+33G>A
XR_243646.4:n.1685C>T
NM_207346.3:c.1447C>T MANE Select	NP_997229.2:p.Pro483Ser