Canonical Allele Identifier: CA401031208

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520395A>T (hg19) ; chr17:g.75524314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524314A>T , CM000679.2:g.75524314A>T	GRCh38
NC_000017.10:g.73520395A>T , CM000679.1:g.73520395A>T	GRCh37
NC_000017.9:g.71031990A>T	NCBI36
NG_013041.1:g.12787A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1483A>T MANE Select	ENSP00000327487.6:p.Ser495Cys
ENST00000434205.8:c.1180A>T	ENSP00000406559.4:p.Ser394Cys
ENST00000545228.3:c.1671A>T	ENSP00000438169.3:p.Arg557Ser
ENST00000577197.2:n.681A>T
ENST00000579449.2:n.2223A>T
ENST00000580013.6:n.2627A>T
ENST00000679370.1:n.3005A>T
ENST00000679429.1:c.*941A>T	ENSP00000505403.1:n.*941A>T
ENST00000679443.1:n.1552A>T
ENST00000679782.1:c.*182A>T	ENSP00000505995.1:n.*182A>T
ENST00000679919.1:n.1754A>T
ENST00000679928.1:c.*2035A>T	ENSP00000506071.1:n.*2035A>T
ENST00000680528.1:n.2449A>T
ENST00000680999.1:c.1696A>T	ENSP00000504984.1:p.Ser566Cys
ENST00000681282.1:c.*1670A>T	ENSP00000506339.1:n.*1670A>T
ENST00000333213.10:c.1483A>T	ENSP00000327487.6:p.Ser495Cys
ENST00000545228.2:c.760A>T
ENST00000577197.1:n.231A>T
ENST00000579449.1:n.680A>T
NM_207346.2:c.1483A>T	NP_997229.2:p.Ser495Cys
XM_005257229.2:c.1671A>T	XP_005257286.1:p.Arg557Ser
XM_006721821.2:c.1368A>T	XP_006721884.1:p.Arg456Ser
XM_011524616.1:c.1554A>T	XP_011522918.1:p.Arg518Ser
XM_011524617.1:c.*65A>T	XP_011522919.1:n.*65A>T
XM_011524618.1:c.1366A>T	XP_011522920.1:p.Ser456Cys
XR_243646.2:n.1715A>T
XM_005257229.4:c.1671A>T	XP_005257286.1:p.Arg557Ser
XR_001753015.1:n.84T>A
XR_001753016.1:n.85T>A
XR_243646.4:n.1721A>T
NM_207346.3:c.1483A>T MANE Select	NP_997229.2:p.Ser495Cys