Canonical Allele Identifier: CA2639834399

Gene: TSEN54

Linked Data

• dbSNP Id: rs2147016249
• gnomAD v4: 17-75523596-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523596G>A , CM000679.2:g.75523596G>A	GRCh38
NC_000017.10:g.73519677G>A , CM000679.1:g.73519677G>A	GRCh37
NC_000017.9:g.71031272G>A	NCBI36
NG_013041.1:g.12069G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.1314-67G>A MANE Select	ENSP00000327487.6:n.1314-67G>A
ENST00000434205.8:c.1011-67G>A	ENSP00000406559.4:n.1011-67G>A
ENST00000545228.3:c.1502-67G>A	ENSP00000438169.3:n.1502-67G>A
ENST00000577197.2:n.445G>A
ENST00000579449.2:n.2054-67G>A
ENST00000580013.6:n.2458-67G>A
ENST00000679370.1:n.2836-67G>A
ENST00000679429.1:c.*772-67G>A	ENSP00000505403.1:n.*772-67G>A
ENST00000679443.1:n.1383-67G>A
ENST00000679782.1:c.*13-67G>A	ENSP00000505995.1:n.*13-67G>A
ENST00000679919.1:n.1585-67G>A
ENST00000679928.1:c.*1866-67G>A	ENSP00000506071.1:n.*1866-67G>A
ENST00000680528.1:n.2280-67G>A
ENST00000680999.1:c.1527-67G>A	ENSP00000504984.1:n.1527-67G>A
ENST00000681282.1:c.*1501-67G>A	ENSP00000506339.1:n.*1501-67G>A
ENST00000333213.10:c.1314-67G>A	ENSP00000327487.6:n.1314-67G>A
ENST00000545228.2:c.591-67G>A
ENST00000579449.1:n.511-67G>A
NM_207346.2:c.1314-67G>A	NP_997229.2:n.1314-67G>A
XM_005257229.2:c.1502-67G>A	XP_005257286.1:n.1502-67G>A
XM_006721821.2:c.1199-67G>A	XP_006721884.1:n.1199-67G>A
XM_011524616.1:c.1501+261G>A	XP_011522918.1:n.1501+261G>A
XM_011524617.1:c.*12+261G>A	XP_011522919.1:n.*12+261G>A
XM_011524618.1:c.1313+261G>A	XP_011522920.1:n.1313+261G>A
XR_243646.2:n.1546-67G>A
XM_005257229.4:c.1502-67G>A	XP_005257286.1:n.1502-67G>A
XR_001753015.1:n.88-228C>T
XR_001753016.1:n.89-192C>T
XR_243646.4:n.1552-67G>A
NM_207346.3:c.1314-67G>A MANE Select	NP_997229.2:n.1314-67G>A