Canonical Allele Identifier: CA401031218

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520397T>G (hg19) ; chr17:g.75524316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524316T>G , CM000679.2:g.75524316T>G	GRCh38
NC_000017.10:g.73520397T>G , CM000679.1:g.73520397T>G	GRCh37
NC_000017.9:g.71031992T>G	NCBI36
NG_013041.1:g.12789T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1485T>G MANE Select	ENSP00000327487.6:p.Ser495Arg
ENST00000434205.8:c.1182T>G	ENSP00000406559.4:p.Ser394Arg
ENST00000545228.3:c.1673T>G	ENSP00000438169.3:p.Val558Gly
ENST00000577197.2:n.683T>G
ENST00000579449.2:n.2225T>G
ENST00000580013.6:n.2629T>G
ENST00000679370.1:n.3007T>G
ENST00000679429.1:c.*943T>G	ENSP00000505403.1:n.*943T>G
ENST00000679443.1:n.1554T>G
ENST00000679782.1:c.*184T>G	ENSP00000505995.1:n.*184T>G
ENST00000679919.1:n.1756T>G
ENST00000679928.1:c.*2037T>G	ENSP00000506071.1:n.*2037T>G
ENST00000680528.1:n.2451T>G
ENST00000680999.1:c.1698T>G	ENSP00000504984.1:p.Ser566Arg
ENST00000681282.1:c.*1672T>G	ENSP00000506339.1:n.*1672T>G
ENST00000333213.10:c.1485T>G	ENSP00000327487.6:p.Ser495Arg
ENST00000545228.2:c.762T>G
ENST00000577197.1:n.233T>G
ENST00000579449.1:n.682T>G
NM_207346.2:c.1485T>G	NP_997229.2:p.Ser495Arg
XM_005257229.2:c.1673T>G	XP_005257286.1:p.Val558Gly
XM_006721821.2:c.1370T>G	XP_006721884.1:p.Val457Gly
XM_011524616.1:c.1556T>G	XP_011522918.1:p.Val519Gly
XM_011524617.1:c.*67T>G	XP_011522919.1:n.*67T>G
XM_011524618.1:c.1368T>G	XP_011522920.1:p.Ser456Arg
XR_243646.2:n.1717T>G
XM_005257229.4:c.1673T>G	XP_005257286.1:p.Val558Gly
XR_001753015.1:n.82A>C
XR_001753016.1:n.83A>C
XR_243646.4:n.1723T>G
NM_207346.3:c.1485T>G MANE Select	NP_997229.2:p.Ser495Arg