Canonical Allele Identifier: CA501819386

Gene: TSEN54

Linked Data

• dbSNP Id: rs2147019477
• MyVariant Identifiers: chr17:g.73520385G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524304G>A , CM000679.2:g.75524304G>A	GRCh38
NC_000017.10:g.73520385G>A , CM000679.1:g.73520385G>A	GRCh37
NC_000017.9:g.71031980G>A	NCBI36
NG_013041.1:g.12777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1473G>A MANE Select	ENSP00000327487.6:p.Leu491=
ENST00000434205.8:c.1170G>A	ENSP00000406559.4:p.Leu390=
ENST00000545228.3:c.1661G>A	ENSP00000438169.3:p.Cys554Tyr
ENST00000577197.2:n.671G>A
ENST00000579449.2:n.2213G>A
ENST00000580013.6:n.2617G>A
ENST00000679370.1:n.2995G>A
ENST00000679429.1:c.*931G>A	ENSP00000505403.1:n.*931G>A
ENST00000679443.1:n.1542G>A
ENST00000679782.1:c.*172G>A	ENSP00000505995.1:n.*172G>A
ENST00000679919.1:n.1744G>A
ENST00000679928.1:c.*2025G>A	ENSP00000506071.1:n.*2025G>A
ENST00000680528.1:n.2439G>A
ENST00000680999.1:c.1686G>A	ENSP00000504984.1:p.Leu562=
ENST00000681282.1:c.*1660G>A	ENSP00000506339.1:n.*1660G>A
ENST00000333213.10:c.1473G>A	ENSP00000327487.6:p.Leu491=
ENST00000545228.2:c.750G>A
ENST00000577197.1:n.221G>A
ENST00000579449.1:n.670G>A
NM_207346.2:c.1473G>A	NP_997229.2:p.Leu491=
XM_005257229.2:c.1661G>A	XP_005257286.1:p.Cys554Tyr
XM_006721821.2:c.1358G>A	XP_006721884.1:p.Cys453Tyr
XM_011524616.1:c.1544G>A	XP_011522918.1:p.Cys515Tyr
XM_011524617.1:c.*55G>A	XP_011522919.1:n.*55G>A
XM_011524618.1:c.1356G>A	XP_011522920.1:p.Leu452=
XR_243646.2:n.1705G>A
XM_005257229.4:c.1661G>A	XP_005257286.1:p.Cys554Tyr
XR_001753015.1:n.87+7C>T
XR_001753016.1:n.88+7C>T
XR_243646.4:n.1711G>A
NM_207346.3:c.1473G>A MANE Select	NP_997229.2:p.Leu491=