Canonical Allele Identifier: CA401031316

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520426T>A (hg19) ; chr17:g.75524345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524345T>A , CM000679.2:g.75524345T>A	GRCh38
NC_000017.10:g.73520426T>A , CM000679.1:g.73520426T>A	GRCh37
NC_000017.9:g.71032021T>A	NCBI36
NG_013041.1:g.12818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1514T>A MANE Select	ENSP00000327487.6:p.Val505Glu
ENST00000434205.8:c.1211T>A	ENSP00000406559.4:p.Val404Glu
ENST00000545228.3:c.*13T>A	ENSP00000438169.3:n.*13T>A
ENST00000577197.2:n.712T>A
ENST00000579449.2:n.2254T>A
ENST00000580013.6:n.2658T>A
ENST00000679370.1:n.3036T>A
ENST00000679429.1:c.*972T>A	ENSP00000505403.1:n.*972T>A
ENST00000679443.1:n.1583T>A
ENST00000679782.1:c.*213T>A	ENSP00000505995.1:n.*213T>A
ENST00000679919.1:n.1785T>A
ENST00000679928.1:c.*2066T>A	ENSP00000506071.1:n.*2066T>A
ENST00000680528.1:n.2480T>A
ENST00000680999.1:c.1727T>A	ENSP00000504984.1:p.Val576Glu
ENST00000681282.1:c.*1701T>A	ENSP00000506339.1:n.*1701T>A
ENST00000333213.10:c.1514T>A	ENSP00000327487.6:p.Val505Glu
ENST00000545228.2:c.791T>A
ENST00000577197.1:n.262T>A
ENST00000579449.1:n.711T>A
NM_207346.2:c.1514T>A	NP_997229.2:p.Val505Glu
XM_005257229.2:c.*13T>A	XP_005257286.1:n.*13T>A
XM_006721821.2:c.*13T>A	XP_006721884.1:n.*13T>A
XM_011524616.1:c.*13T>A	XP_011522918.1:n.*13T>A
XM_011524617.1:c.*96T>A	XP_011522919.1:n.*96T>A
XM_011524618.1:c.1397T>A	XP_011522920.1:p.Val466Glu
XR_243646.2:n.1746T>A
XM_005257229.4:c.*13T>A	XP_005257286.1:n.*13T>A
XR_001753015.1:n.53A>T
XR_001753016.1:n.54A>T
XR_243646.4:n.1752T>A
NM_207346.3:c.1514T>A MANE Select	NP_997229.2:p.Val505Glu