Canonical Allele Identifier: CA1054247101

Gene: SPSB4

Linked Data

• dbSNP Id: rs1938206989
• gnomAD v3: 3-141080345-A-G
• gnomAD v4: 3-141080345-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080345A>G , CM000665.2:g.141080345A>G	GRCh38
NC_000003.11:g.140799187A>G , CM000665.1:g.140799187A>G	GRCh37
NC_000003.10:g.142281877A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13547A>G MANE Select	ENSP00000311609.2:n.694+13547A>G
ENST00000310546.2:c.694+13547A>G	ENSP00000311609.2:n.694+13547A>G
ENST00000507895.1:n.194A>G
ENST00000508126.1:c.161+13547A>G
ENST00000508828.1:n.509A>G
NM_080862.2:c.694+13547A>G	NP_543138.1:n.694+13547A>G
XM_011513313.1:c.694+13547A>G	XP_011511615.1:n.694+13547A>G
XR_924215.1:n.1484A>G
XR_924216.1:n.1484A>G
XM_017007509.2:c.*48A>G	XP_016862998.1:n.*48A>G
XR_924215.3:n.965A>G
XR_924216.3:n.965A>G
NM_080862.3:c.694+13547A>G MANE Select	NP_543138.1:n.694+13547A>G