Canonical Allele Identifier: CA401028590

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2837939
• ClinVar RCV Id: RCV003694793
• MyVariant Identifiers: chr17:g.73517832A>T (hg19) ; chr17:g.75521751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521751A>T , CM000679.2:g.75521751A>T	GRCh38
NC_000017.10:g.73517832A>T , CM000679.1:g.73517832A>T	GRCh37
NC_000017.9:g.71029427A>T	NCBI36
NG_013041.1:g.10224A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.670A>T MANE Select	ENSP00000327487.6:p.Lys224Ter
ENST00000434205.8:c.367A>T	ENSP00000406559.4:p.Lys123Ter
ENST00000545228.3:c.670A>T	ENSP00000438169.3:p.Lys224Ter
ENST00000579449.2:n.469A>T
ENST00000580013.6:n.873A>T
ENST00000583818.2:c.724A>T	ENSP00000461928.2:n.724A>T
ENST00000679370.1:n.1251A>T
ENST00000679429.1:c.*128A>T	ENSP00000505403.1:n.*128A>T
ENST00000679443.1:n.739A>T
ENST00000679782.1:c.670A>T	ENSP00000505995.1:p.Lys224Ter
ENST00000679919.1:n.739A>T
ENST00000679928.1:c.*281A>T	ENSP00000506071.1:n.*281A>T
ENST00000680528.1:n.695A>T
ENST00000680999.1:c.670A>T	ENSP00000504984.1:p.Lys224Ter
ENST00000681282.1:c.699A>T	ENSP00000506339.1:p.Pro233=
ENST00000333213.10:c.670A>T	ENSP00000327487.6:p.Lys224Ter
ENST00000578415.1:c.630A>T
ENST00000583173.5:c.458+241A>T	ENSP00000463619.1:n.458+241A>T
ENST00000583818.1:c.619A>T	ENSP00000461928.1:n.619A>T
NM_207346.2:c.670A>T	NP_997229.2:p.Lys224Ter
XM_005257229.2:c.670A>T	XP_005257286.1:p.Lys224Ter
XM_006721821.2:c.367A>T	XP_006721884.1:p.Lys123Ter
XM_011524616.1:c.670A>T	XP_011522918.1:p.Lys224Ter
XM_011524617.1:c.670A>T	XP_011522919.1:p.Lys224Ter
XM_011524618.1:c.670A>T	XP_011522920.1:p.Lys224Ter
XR_243646.2:n.700A>T
XM_005257229.4:c.670A>T	XP_005257286.1:p.Lys224Ter
XR_243646.4:n.706A>T
NM_207346.3:c.670A>T MANE Select	NP_997229.2:p.Lys224Ter