Canonical Allele Identifier: CA8764278

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2891980
• ClinVar RCV Id: RCV003725208
• dbSNP Id: rs748035605
• ExAC: 17:73517981 G / A
• gnomAD v2: 17-73517981-G-A
• gnomAD v3: 17-75521900-G-A
• gnomAD v4: 17-75521900-G-A
• MyVariant Identifiers: chr17:g.73517981G>A (hg19) ; chr17:g.75521900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521900G>A , CM000679.2:g.75521900G>A	GRCh38
NC_000017.10:g.73517981G>A , CM000679.1:g.73517981G>A	GRCh37
NC_000017.9:g.71029576G>A	NCBI36
NG_013041.1:g.10373G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.819G>A MANE Select	ENSP00000327487.6:p.Glu273=
ENST00000434205.8:c.516G>A	ENSP00000406559.4:p.Glu172=
ENST00000545228.3:c.819G>A	ENSP00000438169.3:p.Glu273=
ENST00000579449.2:n.618G>A
ENST00000580013.6:n.1022G>A
ENST00000679370.1:n.1400G>A
ENST00000679429.1:c.*277G>A	ENSP00000505403.1:n.*277G>A
ENST00000679443.1:n.888G>A
ENST00000679782.1:c.819G>A	ENSP00000505995.1:p.Glu273=
ENST00000679919.1:n.888G>A
ENST00000679928.1:c.*430G>A	ENSP00000506071.1:n.*430G>A
ENST00000680528.1:n.844G>A
ENST00000680999.1:c.819G>A	ENSP00000504984.1:p.Glu273=
ENST00000681282.1:c.*65G>A	ENSP00000506339.1:n.*65G>A
ENST00000333213.10:c.819G>A	ENSP00000327487.6:p.Glu273=
ENST00000578415.1:c.779G>A
ENST00000583173.5:c.459-107G>A	ENSP00000463619.1:n.459-107G>A
NM_207346.2:c.819G>A	NP_997229.2:p.Glu273=
XM_005257229.2:c.819G>A	XP_005257286.1:p.Glu273=
XM_006721821.2:c.516G>A	XP_006721884.1:p.Glu172=
XM_011524616.1:c.819G>A	XP_011522918.1:p.Glu273=
XM_011524617.1:c.819G>A	XP_011522919.1:p.Glu273=
XM_011524618.1:c.819G>A	XP_011522920.1:p.Glu273=
XR_243646.2:n.849G>A
XM_005257229.4:c.819G>A	XP_005257286.1:p.Glu273=
XR_243646.4:n.855G>A
NM_207346.3:c.819G>A MANE Select	NP_997229.2:p.Glu273=