Canonical Allele Identifier: CA2667974534

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080373-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080373G>A , CM000665.2:g.141080373G>A	GRCh38
NC_000003.11:g.140799215G>A , CM000665.1:g.140799215G>A	GRCh37
NC_000003.10:g.142281905G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310546.3:c.694+13575G>A MANE Select	ENSP00000311609.2:n.694+13575G>A
ENST00000310546.2:c.694+13575G>A	ENSP00000311609.2:n.694+13575G>A
ENST00000507895.1:n.222G>A
ENST00000508126.1:c.161+13575G>A
ENST00000508828.1:n.537G>A
NM_080862.2:c.694+13575G>A	NP_543138.1:n.694+13575G>A
XM_011513313.1:c.694+13575G>A	XP_011511615.1:n.694+13575G>A
XR_924215.1:n.1512G>A
XR_924216.1:n.1512G>A
XM_017007509.2:c.*76G>A	XP_016862998.1:n.*76G>A
XR_924215.3:n.993G>A
XR_924216.3:n.993G>A
NM_080862.3:c.694+13575G>A MANE Select	NP_543138.1:n.694+13575G>A