Canonical Allele Identifier: CA401031082

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520362G>A (hg19) ; chr17:g.75524281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524281G>A , CM000679.2:g.75524281G>A	GRCh38
NC_000017.10:g.73520362G>A , CM000679.1:g.73520362G>A	GRCh37
NC_000017.9:g.71031957G>A	NCBI36
NG_013041.1:g.12754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1450G>A MANE Select	ENSP00000327487.6:p.Asp484Asn
ENST00000434205.8:c.1147G>A	ENSP00000406559.4:p.Asp383Asn
ENST00000545228.3:c.1638G>A	ENSP00000438169.3:p.Gln546=
ENST00000577197.2:n.648G>A
ENST00000579449.2:n.2190G>A
ENST00000580013.6:n.2594G>A
ENST00000679370.1:n.2972G>A
ENST00000679429.1:c.*908G>A	ENSP00000505403.1:n.*908G>A
ENST00000679443.1:n.1519G>A
ENST00000679782.1:c.*149G>A	ENSP00000505995.1:n.*149G>A
ENST00000679919.1:n.1721G>A
ENST00000679928.1:c.*2002G>A	ENSP00000506071.1:n.*2002G>A
ENST00000680528.1:n.2416G>A
ENST00000680999.1:c.1663G>A	ENSP00000504984.1:p.Asp555Asn
ENST00000681282.1:c.*1637G>A	ENSP00000506339.1:n.*1637G>A
ENST00000333213.10:c.1450G>A	ENSP00000327487.6:p.Asp484Asn
ENST00000545228.2:c.727G>A
ENST00000577197.1:n.198G>A
ENST00000579449.1:n.647G>A
NM_207346.2:c.1450G>A	NP_997229.2:p.Asp484Asn
XM_005257229.2:c.1638G>A	XP_005257286.1:p.Gln546=
XM_006721821.2:c.1335G>A	XP_006721884.1:p.Gln445=
XM_011524616.1:c.1521G>A	XP_011522918.1:p.Gln507=
XM_011524617.1:c.*32G>A	XP_011522919.1:n.*32G>A
XM_011524618.1:c.1333G>A	XP_011522920.1:p.Asp445Asn
XR_243646.2:n.1682G>A
XM_005257229.4:c.1638G>A	XP_005257286.1:p.Gln546=
XR_001753015.1:n.87+30C>T
XR_001753016.1:n.88+30C>T
XR_243646.4:n.1688G>A
NM_207346.3:c.1450G>A MANE Select	NP_997229.2:p.Asp484Asn