Canonical Allele Identifier: CA2667974566

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080415-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080415C>A , CM000665.2:g.141080415C>A	GRCh38
NC_000003.11:g.140799257C>A , CM000665.1:g.140799257C>A	GRCh37
NC_000003.10:g.142281947C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13617C>A MANE Select	ENSP00000311609.2:n.694+13617C>A
ENST00000310546.2:c.694+13617C>A	ENSP00000311609.2:n.694+13617C>A
ENST00000507895.1:n.257+7C>A
ENST00000508126.1:c.161+13617C>A
NM_080862.2:c.694+13617C>A	NP_543138.1:n.694+13617C>A
XM_011513313.1:c.694+13617C>A	XP_011511615.1:n.694+13617C>A
XR_924215.1:n.1547+7C>A
XR_924216.1:n.1547+7C>A
XM_017007509.2:c.*118C>A	XP_016862998.1:n.*118C>A
XR_924215.3:n.1028+7C>A
XR_924216.3:n.1028+7C>A
NM_080862.3:c.694+13617C>A MANE Select	NP_543138.1:n.694+13617C>A