Canonical Allele Identifier: CA401031398

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520447T>A (hg19) ; chr17:g.75524366T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524366T>A , CM000679.2:g.75524366T>A	GRCh38
NC_000017.10:g.73520447T>A , CM000679.1:g.73520447T>A	GRCh37
NC_000017.9:g.71032042T>A	NCBI36
NG_013041.1:g.12839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1535T>A MANE Select	ENSP00000327487.6:p.Phe512Tyr
ENST00000434205.8:c.1232T>A	ENSP00000406559.4:p.Phe411Tyr
ENST00000545228.3:c.*34T>A	ENSP00000438169.3:n.*34T>A
ENST00000577197.2:n.733T>A
ENST00000579449.2:n.2275T>A
ENST00000580013.6:n.2679T>A
ENST00000679370.1:n.3057T>A
ENST00000679429.1:c.*993T>A	ENSP00000505403.1:n.*993T>A
ENST00000679443.1:n.1604T>A
ENST00000679782.1:c.*234T>A	ENSP00000505995.1:n.*234T>A
ENST00000679919.1:n.1806T>A
ENST00000679928.1:c.*2087T>A	ENSP00000506071.1:n.*2087T>A
ENST00000680528.1:n.2501T>A
ENST00000680999.1:c.1748T>A	ENSP00000504984.1:p.Phe583Tyr
ENST00000681282.1:c.*1722T>A	ENSP00000506339.1:n.*1722T>A
ENST00000333213.10:c.1535T>A	ENSP00000327487.6:p.Phe512Tyr
ENST00000545228.2:c.812T>A
ENST00000577197.1:n.283T>A
ENST00000579449.1:n.732T>A
NM_207346.2:c.1535T>A	NP_997229.2:p.Phe512Tyr
XM_005257229.2:c.*34T>A	XP_005257286.1:n.*34T>A
XM_006721821.2:c.*34T>A	XP_006721884.1:n.*34T>A
XM_011524616.1:c.*34T>A	XP_011522918.1:n.*34T>A
XM_011524618.1:c.1418T>A	XP_011522920.1:p.Phe473Tyr
XR_243646.2:n.1767T>A
XM_005257229.4:c.*34T>A	XP_005257286.1:n.*34T>A
XR_001753015.1:n.32A>T
XR_001753016.1:n.33A>T
XR_243646.4:n.1773T>A
NM_207346.3:c.1535T>A MANE Select	NP_997229.2:p.Phe512Tyr