Canonical Allele Identifier: CA401031060

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520354C>A (hg19) ; chr17:g.75524273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524273C>A , CM000679.2:g.75524273C>A	GRCh38
NC_000017.10:g.73520354C>A , CM000679.1:g.73520354C>A	GRCh37
NC_000017.9:g.71031949C>A	NCBI36
NG_013041.1:g.12746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1442C>A MANE Select	ENSP00000327487.6:p.Pro481His
ENST00000434205.8:c.1139C>A	ENSP00000406559.4:p.Pro380His
ENST00000545228.3:c.1630C>A	ENSP00000438169.3:p.Leu544Met
ENST00000577197.2:n.640C>A
ENST00000579449.2:n.2182C>A
ENST00000580013.6:n.2586C>A
ENST00000679370.1:n.2964C>A
ENST00000679429.1:c.*900C>A	ENSP00000505403.1:n.*900C>A
ENST00000679443.1:n.1511C>A
ENST00000679782.1:c.*141C>A	ENSP00000505995.1:n.*141C>A
ENST00000679919.1:n.1713C>A
ENST00000679928.1:c.*1994C>A	ENSP00000506071.1:n.*1994C>A
ENST00000680528.1:n.2408C>A
ENST00000680999.1:c.1655C>A	ENSP00000504984.1:p.Pro552His
ENST00000681282.1:c.*1629C>A	ENSP00000506339.1:n.*1629C>A
ENST00000333213.10:c.1442C>A	ENSP00000327487.6:p.Pro481His
ENST00000545228.2:c.719C>A
ENST00000577197.1:n.190C>A
ENST00000579449.1:n.639C>A
NM_207346.2:c.1442C>A	NP_997229.2:p.Pro481His
XM_005257229.2:c.1630C>A	XP_005257286.1:p.Leu544Met
XM_006721821.2:c.1327C>A	XP_006721884.1:p.Leu443Met
XM_011524616.1:c.1513C>A	XP_011522918.1:p.Leu505Met
XM_011524617.1:c.*24C>A	XP_011522919.1:n.*24C>A
XM_011524618.1:c.1325C>A	XP_011522920.1:p.Pro442His
XR_243646.2:n.1674C>A
XM_005257229.4:c.1630C>A	XP_005257286.1:p.Leu544Met
XR_001753015.1:n.87+38G>T
XR_001753016.1:n.88+38G>T
XR_243646.4:n.1680C>A
NM_207346.3:c.1442C>A MANE Select	NP_997229.2:p.Pro481His