Canonical Allele Identifier: CA85025691

Gene: SPSB4

Linked Data

• dbSNP Id: rs188023234
• gnomAD v2: 3-140799243-G-A
• gnomAD v3: 3-141080401-G-A
• gnomAD v4: 3-141080401-G-A
• MyVariant Identifiers: chr3:g.140799243G>A (hg19) ; chr3:g.141080401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080401G>A , CM000665.2:g.141080401G>A	GRCh38
NC_000003.11:g.140799243G>A , CM000665.1:g.140799243G>A	GRCh37
NC_000003.10:g.142281933G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13603G>A MANE Select	ENSP00000311609.2:n.694+13603G>A
ENST00000310546.2:c.694+13603G>A	ENSP00000311609.2:n.694+13603G>A
ENST00000507895.1:n.250G>A
ENST00000508126.1:c.161+13603G>A
NM_080862.2:c.694+13603G>A	NP_543138.1:n.694+13603G>A
XM_011513313.1:c.694+13603G>A	XP_011511615.1:n.694+13603G>A
XR_924215.1:n.1540G>A
XR_924216.1:n.1540G>A
XM_017007509.2:c.*104G>A	XP_016862998.1:n.*104G>A
XR_924215.3:n.1021G>A
XR_924216.3:n.1021G>A
NM_080862.3:c.694+13603G>A MANE Select	NP_543138.1:n.694+13603G>A