Canonical Allele Identifier: CA401031062

Gene: TSEN54

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1442C>G MANE Select	ENSP00000327487.6:p.Pro481Arg
ENST00000434205.8:c.1139C>G	ENSP00000406559.4:p.Pro380Arg
ENST00000545228.3:c.1630C>G	ENSP00000438169.3:p.Leu544Val
ENST00000577197.2:n.640C>G
ENST00000579449.2:n.2182C>G
ENST00000580013.6:n.2586C>G
ENST00000679370.1:n.2964C>G
ENST00000679429.1:c.*900C>G	ENSP00000505403.1:n.*900C>G
ENST00000679443.1:n.1511C>G
ENST00000679782.1:c.*141C>G	ENSP00000505995.1:n.*141C>G
ENST00000679919.1:n.1713C>G
ENST00000679928.1:c.*1994C>G	ENSP00000506071.1:n.*1994C>G
ENST00000680528.1:n.2408C>G
ENST00000680999.1:c.1655C>G	ENSP00000504984.1:p.Pro552Arg
ENST00000681282.1:c.*1629C>G	ENSP00000506339.1:n.*1629C>G
ENST00000333213.10:c.1442C>G	ENSP00000327487.6:p.Pro481Arg
ENST00000545228.2:c.719C>G
ENST00000577197.1:n.190C>G
ENST00000579449.1:n.639C>G
NM_207346.2:c.1442C>G	NP_997229.2:p.Pro481Arg
XM_005257229.2:c.1630C>G	XP_005257286.1:p.Leu544Val
XM_006721821.2:c.1327C>G	XP_006721884.1:p.Leu443Val
XM_011524616.1:c.1513C>G	XP_011522918.1:p.Leu505Val
XM_011524617.1:c.*24C>G	XP_011522919.1:n.*24C>G
XM_011524618.1:c.1325C>G	XP_011522920.1:p.Pro442Arg
XR_243646.2:n.1674C>G
XM_005257229.4:c.1630C>G	XP_005257286.1:p.Leu544Val
XR_001753015.1:n.87+38G>C
XR_001753016.1:n.88+38G>C
XR_243646.4:n.1680C>G
NM_207346.3:c.1442C>G MANE Select	NP_997229.2:p.Pro481Arg