Canonical Allele Identifier: CA986324319

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053427193
• gnomAD v3: 17-75521540-G-A
• gnomAD v4: 17-75521540-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521540G>A , CM000679.2:g.75521540G>A	GRCh38
NC_000017.10:g.73517621G>A , CM000679.1:g.73517621G>A	GRCh37
NC_000017.9:g.71029216G>A	NCBI36
NG_013041.1:g.10013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.623+30G>A MANE Select	ENSP00000327487.6:n.623+30G>A
ENST00000434205.8:c.320+30G>A	ENSP00000406559.4:n.320+30G>A
ENST00000545228.3:c.623+30G>A	ENSP00000438169.3:n.623+30G>A
ENST00000579449.2:n.422+30G>A
ENST00000580013.6:n.662G>A
ENST00000583818.2:c.677+30G>A	ENSP00000461928.2:n.677+30G>A
ENST00000679370.1:n.1040G>A
ENST00000679429.1:c.*81+30G>A	ENSP00000505403.1:n.*81+30G>A
ENST00000679443.1:n.528G>A
ENST00000679782.1:c.623+30G>A	ENSP00000505995.1:n.623+30G>A
ENST00000679919.1:n.528G>A
ENST00000679928.1:c.*234+30G>A	ENSP00000506071.1:n.*234+30G>A
ENST00000680528.1:n.648+30G>A
ENST00000680999.1:c.623+30G>A	ENSP00000504984.1:n.623+30G>A
ENST00000681282.1:c.623+30G>A	ENSP00000506339.1:n.623+30G>A
ENST00000333213.10:c.623+30G>A	ENSP00000327487.6:n.623+30G>A
ENST00000578415.1:c.583+30G>A
ENST00000583173.5:c.458+30G>A	ENSP00000463619.1:n.458+30G>A
ENST00000583818.1:c.572+30G>A	ENSP00000461928.1:n.572+30G>A
NM_207346.2:c.623+30G>A	NP_997229.2:n.623+30G>A
XM_005257229.2:c.623+30G>A	XP_005257286.1:n.623+30G>A
XM_006721821.2:c.320+30G>A	XP_006721884.1:n.320+30G>A
XM_011524616.1:c.623+30G>A	XP_011522918.1:n.623+30G>A
XM_011524617.1:c.623+30G>A	XP_011522919.1:n.623+30G>A
XM_011524618.1:c.623+30G>A	XP_011522920.1:n.623+30G>A
XR_243646.2:n.653+30G>A
XM_005257229.4:c.623+30G>A	XP_005257286.1:n.623+30G>A
XR_243646.4:n.659+30G>A
NM_207346.3:c.623+30G>A MANE Select	NP_997229.2:n.623+30G>A