Canonical Allele Identifier: CA1054247128

Gene: SPSB4

Linked Data

• dbSNP Id: rs1938209250
• gnomAD v3: 3-141080416-T-C
• gnomAD v4: 3-141080416-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080416T>C , CM000665.2:g.141080416T>C	GRCh38
NC_000003.11:g.140799258T>C , CM000665.1:g.140799258T>C	GRCh37
NC_000003.10:g.142281948T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13618T>C MANE Select	ENSP00000311609.2:n.694+13618T>C
ENST00000310546.2:c.694+13618T>C	ENSP00000311609.2:n.694+13618T>C
ENST00000507895.1:n.257+8T>C
ENST00000508126.1:c.161+13618T>C
NM_080862.2:c.694+13618T>C	NP_543138.1:n.694+13618T>C
XM_011513313.1:c.694+13618T>C	XP_011511615.1:n.694+13618T>C
XR_924215.1:n.1547+8T>C
XR_924216.1:n.1547+8T>C
XM_017007509.2:c.*119T>C	XP_016862998.1:n.*119T>C
XR_924215.3:n.1028+8T>C
XR_924216.3:n.1028+8T>C
NM_080862.3:c.694+13618T>C MANE Select	NP_543138.1:n.694+13618T>C