Canonical Allele Identifier: CA501819295

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524277-C-T
• MyVariant Identifiers: chr17:g.73520358C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1446C>T MANE Select	ENSP00000327487.6:p.Val482=
ENST00000434205.8:c.1143C>T	ENSP00000406559.4:p.Val381=
ENST00000545228.3:c.1634C>T	ENSP00000438169.3:p.Ser545Phe
ENST00000577197.2:n.644C>T
ENST00000579449.2:n.2186C>T
ENST00000580013.6:n.2590C>T
ENST00000679370.1:n.2968C>T
ENST00000679429.1:c.*904C>T	ENSP00000505403.1:n.*904C>T
ENST00000679443.1:n.1515C>T
ENST00000679782.1:c.*145C>T	ENSP00000505995.1:n.*145C>T
ENST00000679919.1:n.1717C>T
ENST00000679928.1:c.*1998C>T	ENSP00000506071.1:n.*1998C>T
ENST00000680528.1:n.2412C>T
ENST00000680999.1:c.1659C>T	ENSP00000504984.1:p.Val553=
ENST00000681282.1:c.*1633C>T	ENSP00000506339.1:n.*1633C>T
ENST00000333213.10:c.1446C>T	ENSP00000327487.6:p.Val482=
ENST00000545228.2:c.723C>T
ENST00000577197.1:n.194C>T
ENST00000579449.1:n.643C>T
NM_207346.2:c.1446C>T	NP_997229.2:p.Val482=
XM_005257229.2:c.1634C>T	XP_005257286.1:p.Ser545Phe
XM_006721821.2:c.1331C>T	XP_006721884.1:p.Ser444Phe
XM_011524616.1:c.1517C>T	XP_011522918.1:p.Ser506Phe
XM_011524617.1:c.*28C>T	XP_011522919.1:n.*28C>T
XM_011524618.1:c.1329C>T	XP_011522920.1:p.Val443=
XR_243646.2:n.1678C>T
XM_005257229.4:c.1634C>T	XP_005257286.1:p.Ser545Phe
XR_001753015.1:n.87+34G>A
XR_001753016.1:n.88+34G>A
XR_243646.4:n.1684C>T
NM_207346.3:c.1446C>T MANE Select	NP_997229.2:p.Val482=