Canonical Allele Identifier: CA401031110

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520369G>A (hg19) ; chr17:g.75524288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524288G>A , CM000679.2:g.75524288G>A	GRCh38
NC_000017.10:g.73520369G>A , CM000679.1:g.73520369G>A	GRCh37
NC_000017.9:g.71031964G>A	NCBI36
NG_013041.1:g.12761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1457G>A MANE Select	ENSP00000327487.6:p.Cys486Tyr
ENST00000434205.8:c.1154G>A	ENSP00000406559.4:p.Cys385Tyr
ENST00000545228.3:c.1645G>A	ENSP00000438169.3:p.Ala549Thr
ENST00000577197.2:n.655G>A
ENST00000579449.2:n.2197G>A
ENST00000580013.6:n.2601G>A
ENST00000679370.1:n.2979G>A
ENST00000679429.1:c.*915G>A	ENSP00000505403.1:n.*915G>A
ENST00000679443.1:n.1526G>A
ENST00000679782.1:c.*156G>A	ENSP00000505995.1:n.*156G>A
ENST00000679919.1:n.1728G>A
ENST00000679928.1:c.*2009G>A	ENSP00000506071.1:n.*2009G>A
ENST00000680528.1:n.2423G>A
ENST00000680999.1:c.1670G>A	ENSP00000504984.1:p.Cys557Tyr
ENST00000681282.1:c.*1644G>A	ENSP00000506339.1:n.*1644G>A
ENST00000333213.10:c.1457G>A	ENSP00000327487.6:p.Cys486Tyr
ENST00000545228.2:c.734G>A
ENST00000577197.1:n.205G>A
ENST00000579449.1:n.654G>A
NM_207346.2:c.1457G>A	NP_997229.2:p.Cys486Tyr
XM_005257229.2:c.1645G>A	XP_005257286.1:p.Ala549Thr
XM_006721821.2:c.1342G>A	XP_006721884.1:p.Ala448Thr
XM_011524616.1:c.1528G>A	XP_011522918.1:p.Ala510Thr
XM_011524617.1:c.*39G>A	XP_011522919.1:n.*39G>A
XM_011524618.1:c.1340G>A	XP_011522920.1:p.Cys447Tyr
XR_243646.2:n.1689G>A
XM_005257229.4:c.1645G>A	XP_005257286.1:p.Ala549Thr
XR_001753015.1:n.87+23C>T
XR_001753016.1:n.88+23C>T
XR_243646.4:n.1695G>A
NM_207346.3:c.1457G>A MANE Select	NP_997229.2:p.Cys486Tyr