Canonical Allele Identifier: CA501819348

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053475270
• MyVariant Identifiers: chr17:g.73520373C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524292C>T , CM000679.2:g.75524292C>T	GRCh38
NC_000017.10:g.73520373C>T , CM000679.1:g.73520373C>T	GRCh37
NC_000017.9:g.71031968C>T	NCBI36
NG_013041.1:g.12765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1461C>T MANE Select	ENSP00000327487.6:p.Ser487=
ENST00000434205.8:c.1158C>T	ENSP00000406559.4:p.Ser386=
ENST00000545228.3:c.1649C>T	ENSP00000438169.3:p.Ala550Val
ENST00000577197.2:n.659C>T
ENST00000579449.2:n.2201C>T
ENST00000580013.6:n.2605C>T
ENST00000679370.1:n.2983C>T
ENST00000679429.1:c.*919C>T	ENSP00000505403.1:n.*919C>T
ENST00000679443.1:n.1530C>T
ENST00000679782.1:c.*160C>T	ENSP00000505995.1:n.*160C>T
ENST00000679919.1:n.1732C>T
ENST00000679928.1:c.*2013C>T	ENSP00000506071.1:n.*2013C>T
ENST00000680528.1:n.2427C>T
ENST00000680999.1:c.1674C>T	ENSP00000504984.1:p.Ser558=
ENST00000681282.1:c.*1648C>T	ENSP00000506339.1:n.*1648C>T
ENST00000333213.10:c.1461C>T	ENSP00000327487.6:p.Ser487=
ENST00000545228.2:c.738C>T
ENST00000577197.1:n.209C>T
ENST00000579449.1:n.658C>T
NM_207346.2:c.1461C>T	NP_997229.2:p.Ser487=
XM_005257229.2:c.1649C>T	XP_005257286.1:p.Ala550Val
XM_006721821.2:c.1346C>T	XP_006721884.1:p.Ala449Val
XM_011524616.1:c.1532C>T	XP_011522918.1:p.Ala511Val
XM_011524617.1:c.*43C>T	XP_011522919.1:n.*43C>T
XM_011524618.1:c.1344C>T	XP_011522920.1:p.Ser448=
XR_243646.2:n.1693C>T
XM_005257229.4:c.1649C>T	XP_005257286.1:p.Ala550Val
XR_001753015.1:n.87+19G>A
XR_001753016.1:n.88+19G>A
XR_243646.4:n.1699C>T
NM_207346.3:c.1461C>T MANE Select	NP_997229.2:p.Ser487=