Canonical Allele Identifier: CA8764455

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 325096
• ClinVar RCV Id: RCV000388293 ; RCV002523012
• dbSNP Id: rs767631739
• ExAC: 17:73520364 C / T
• gnomAD v2: 17-73520364-C-T
• gnomAD v3: 17-75524283-C-T
• gnomAD v4: 17-75524283-C-T
• MyVariant Identifiers: chr17:g.73520364C>T (hg19) ; chr17:g.75524283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524283C>T , CM000679.2:g.75524283C>T	GRCh38
NC_000017.10:g.73520364C>T , CM000679.1:g.73520364C>T	GRCh37
NC_000017.9:g.71031959C>T	NCBI36
NG_013041.1:g.12756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1452C>T MANE Select	ENSP00000327487.6:p.Asp484=
ENST00000434205.8:c.1149C>T	ENSP00000406559.4:p.Asp383=
ENST00000545228.3:c.1640C>T	ENSP00000438169.3:p.Thr547Ile
ENST00000577197.2:n.650C>T
ENST00000579449.2:n.2192C>T
ENST00000580013.6:n.2596C>T
ENST00000679370.1:n.2974C>T
ENST00000679429.1:c.*910C>T	ENSP00000505403.1:n.*910C>T
ENST00000679443.1:n.1521C>T
ENST00000679782.1:c.*151C>T	ENSP00000505995.1:n.*151C>T
ENST00000679919.1:n.1723C>T
ENST00000679928.1:c.*2004C>T	ENSP00000506071.1:n.*2004C>T
ENST00000680528.1:n.2418C>T
ENST00000680999.1:c.1665C>T	ENSP00000504984.1:p.Asp555=
ENST00000681282.1:c.*1639C>T	ENSP00000506339.1:n.*1639C>T
ENST00000333213.10:c.1452C>T	ENSP00000327487.6:p.Asp484=
ENST00000545228.2:c.729C>T
ENST00000577197.1:n.200C>T
ENST00000579449.1:n.649C>T
NM_207346.2:c.1452C>T	NP_997229.2:p.Asp484=
XM_005257229.2:c.1640C>T	XP_005257286.1:p.Thr547Ile
XM_006721821.2:c.1337C>T	XP_006721884.1:p.Thr446Ile
XM_011524616.1:c.1523C>T	XP_011522918.1:p.Thr508Ile
XM_011524617.1:c.*34C>T	XP_011522919.1:n.*34C>T
XM_011524618.1:c.1335C>T	XP_011522920.1:p.Asp445=
XR_243646.2:n.1684C>T
XM_005257229.4:c.1640C>T	XP_005257286.1:p.Thr547Ile
XR_001753015.1:n.87+28G>A
XR_001753016.1:n.88+28G>A
XR_243646.4:n.1690C>T
NM_207346.3:c.1452C>T MANE Select	NP_997229.2:p.Asp484=