Canonical Allele Identifier: CA401031319

Gene: TSEN54

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1514T>G MANE Select	ENSP00000327487.6:p.Val505Gly
ENST00000434205.8:c.1211T>G	ENSP00000406559.4:p.Val404Gly
ENST00000545228.3:c.*13T>G	ENSP00000438169.3:n.*13T>G
ENST00000577197.2:n.712T>G
ENST00000579449.2:n.2254T>G
ENST00000580013.6:n.2658T>G
ENST00000679370.1:n.3036T>G
ENST00000679429.1:c.*972T>G	ENSP00000505403.1:n.*972T>G
ENST00000679443.1:n.1583T>G
ENST00000679782.1:c.*213T>G	ENSP00000505995.1:n.*213T>G
ENST00000679919.1:n.1785T>G
ENST00000679928.1:c.*2066T>G	ENSP00000506071.1:n.*2066T>G
ENST00000680528.1:n.2480T>G
ENST00000680999.1:c.1727T>G	ENSP00000504984.1:p.Val576Gly
ENST00000681282.1:c.*1701T>G	ENSP00000506339.1:n.*1701T>G
ENST00000333213.10:c.1514T>G	ENSP00000327487.6:p.Val505Gly
ENST00000545228.2:c.791T>G
ENST00000577197.1:n.262T>G
ENST00000579449.1:n.711T>G
NM_207346.2:c.1514T>G	NP_997229.2:p.Val505Gly
XM_005257229.2:c.*13T>G	XP_005257286.1:n.*13T>G
XM_006721821.2:c.*13T>G	XP_006721884.1:n.*13T>G
XM_011524616.1:c.*13T>G	XP_011522918.1:n.*13T>G
XM_011524617.1:c.*96T>G	XP_011522919.1:n.*96T>G
XM_011524618.1:c.1397T>G	XP_011522920.1:p.Val466Gly
XR_243646.2:n.1746T>G
XM_005257229.4:c.*13T>G	XP_005257286.1:n.*13T>G
XR_001753015.1:n.53A>C
XR_001753016.1:n.54A>C
XR_243646.4:n.1752T>G
NM_207346.3:c.1514T>G MANE Select	NP_997229.2:p.Val505Gly