Canonical Allele Identifier: CA501819298

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520358C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524277C>A , CM000679.2:g.75524277C>A	GRCh38
NC_000017.10:g.73520358C>A , CM000679.1:g.73520358C>A	GRCh37
NC_000017.9:g.71031953C>A	NCBI36
NG_013041.1:g.12750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1446C>A MANE Select	ENSP00000327487.6:p.Val482=
ENST00000434205.8:c.1143C>A	ENSP00000406559.4:p.Val381=
ENST00000545228.3:c.1634C>A	ENSP00000438169.3:p.Ser545Tyr
ENST00000577197.2:n.644C>A
ENST00000579449.2:n.2186C>A
ENST00000580013.6:n.2590C>A
ENST00000679370.1:n.2968C>A
ENST00000679429.1:c.*904C>A	ENSP00000505403.1:n.*904C>A
ENST00000679443.1:n.1515C>A
ENST00000679782.1:c.*145C>A	ENSP00000505995.1:n.*145C>A
ENST00000679919.1:n.1717C>A
ENST00000679928.1:c.*1998C>A	ENSP00000506071.1:n.*1998C>A
ENST00000680528.1:n.2412C>A
ENST00000680999.1:c.1659C>A	ENSP00000504984.1:p.Val553=
ENST00000681282.1:c.*1633C>A	ENSP00000506339.1:n.*1633C>A
ENST00000333213.10:c.1446C>A	ENSP00000327487.6:p.Val482=
ENST00000545228.2:c.723C>A
ENST00000577197.1:n.194C>A
ENST00000579449.1:n.643C>A
NM_207346.2:c.1446C>A	NP_997229.2:p.Val482=
XM_005257229.2:c.1634C>A	XP_005257286.1:p.Ser545Tyr
XM_006721821.2:c.1331C>A	XP_006721884.1:p.Ser444Tyr
XM_011524616.1:c.1517C>A	XP_011522918.1:p.Ser506Tyr
XM_011524617.1:c.*28C>A	XP_011522919.1:n.*28C>A
XM_011524618.1:c.1329C>A	XP_011522920.1:p.Val443=
XR_243646.2:n.1678C>A
XM_005257229.4:c.1634C>A	XP_005257286.1:p.Ser545Tyr
XR_001753015.1:n.87+34G>T
XR_001753016.1:n.88+34G>T
XR_243646.4:n.1684C>A
NM_207346.3:c.1446C>A MANE Select	NP_997229.2:p.Val482=