Canonical Allele Identifier: CA1406373042

Gene: SPSB4

Linked Data

• dbSNP Id: rs1938208038
• gnomAD v4: 3-141080392-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080392A>G , CM000665.2:g.141080392A>G	GRCh38
NC_000003.11:g.140799234A>G , CM000665.1:g.140799234A>G	GRCh37
NC_000003.10:g.142281924A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310546.3:c.694+13594A>G MANE Select	ENSP00000311609.2:n.694+13594A>G
ENST00000310546.2:c.694+13594A>G	ENSP00000311609.2:n.694+13594A>G
ENST00000507895.1:n.241A>G
ENST00000508126.1:c.161+13594A>G
NM_080862.2:c.694+13594A>G	NP_543138.1:n.694+13594A>G
XM_011513313.1:c.694+13594A>G	XP_011511615.1:n.694+13594A>G
XR_924215.1:n.1531A>G
XR_924216.1:n.1531A>G
XM_017007509.2:c.*95A>G	XP_016862998.1:n.*95A>G
XR_924215.3:n.1012A>G
XR_924216.3:n.1012A>G
NM_080862.3:c.694+13594A>G MANE Select	NP_543138.1:n.694+13594A>G