Canonical Allele Identifier: CA2667974536

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080380-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080380G>A , CM000665.2:g.141080380G>A	GRCh38
NC_000003.11:g.140799222G>A , CM000665.1:g.140799222G>A	GRCh37
NC_000003.10:g.142281912G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310546.3:c.694+13582G>A MANE Select	ENSP00000311609.2:n.694+13582G>A
ENST00000310546.2:c.694+13582G>A	ENSP00000311609.2:n.694+13582G>A
ENST00000507895.1:n.229G>A
ENST00000508126.1:c.161+13582G>A
NM_080862.2:c.694+13582G>A	NP_543138.1:n.694+13582G>A
XM_011513313.1:c.694+13582G>A	XP_011511615.1:n.694+13582G>A
XR_924215.1:n.1519G>A
XR_924216.1:n.1519G>A
XM_017007509.2:c.*83G>A	XP_016862998.1:n.*83G>A
XR_924215.3:n.1000G>A
XR_924216.3:n.1000G>A
NM_080862.3:c.694+13582G>A MANE Select	NP_543138.1:n.694+13582G>A