Canonical Allele Identifier: CA401031095

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520365C>A (hg19) ; chr17:g.75524284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524284C>A , CM000679.2:g.75524284C>A	GRCh38
NC_000017.10:g.73520365C>A , CM000679.1:g.73520365C>A	GRCh37
NC_000017.9:g.71031960C>A	NCBI36
NG_013041.1:g.12757C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1453C>A MANE Select	ENSP00000327487.6:p.Leu485Ile
ENST00000434205.8:c.1150C>A	ENSP00000406559.4:p.Leu384Ile
ENST00000545228.3:c.1641C>A	ENSP00000438169.3:p.Thr547=
ENST00000577197.2:n.651C>A
ENST00000579449.2:n.2193C>A
ENST00000580013.6:n.2597C>A
ENST00000679370.1:n.2975C>A
ENST00000679429.1:c.*911C>A	ENSP00000505403.1:n.*911C>A
ENST00000679443.1:n.1522C>A
ENST00000679782.1:c.*152C>A	ENSP00000505995.1:n.*152C>A
ENST00000679919.1:n.1724C>A
ENST00000679928.1:c.*2005C>A	ENSP00000506071.1:n.*2005C>A
ENST00000680528.1:n.2419C>A
ENST00000680999.1:c.1666C>A	ENSP00000504984.1:p.Leu556Ile
ENST00000681282.1:c.*1640C>A	ENSP00000506339.1:n.*1640C>A
ENST00000333213.10:c.1453C>A	ENSP00000327487.6:p.Leu485Ile
ENST00000545228.2:c.730C>A
ENST00000577197.1:n.201C>A
ENST00000579449.1:n.650C>A
NM_207346.2:c.1453C>A	NP_997229.2:p.Leu485Ile
XM_005257229.2:c.1641C>A	XP_005257286.1:p.Thr547=
XM_006721821.2:c.1338C>A	XP_006721884.1:p.Thr446=
XM_011524616.1:c.1524C>A	XP_011522918.1:p.Thr508=
XM_011524617.1:c.*35C>A	XP_011522919.1:n.*35C>A
XM_011524618.1:c.1336C>A	XP_011522920.1:p.Leu446Ile
XR_243646.2:n.1685C>A
XM_005257229.4:c.1641C>A	XP_005257286.1:p.Thr547=
XR_001753015.1:n.87+27G>T
XR_001753016.1:n.88+27G>T
XR_243646.4:n.1691C>A
NM_207346.3:c.1453C>A MANE Select	NP_997229.2:p.Leu485Ile