Canonical Allele Identifier: CA546779123

Gene: SPSB4

Linked Data

• dbSNP Id: rs1434036320
• gnomAD v2: 3-140799162-A-C
• gnomAD v3: 3-141080320-A-C
• gnomAD v4: 3-141080320-A-C
• MyVariant Identifiers: chr3:g.140799162A>C (hg19) ; chr3:g.141080320A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080320A>C , CM000665.2:g.141080320A>C	GRCh38
NC_000003.11:g.140799162A>C , CM000665.1:g.140799162A>C	GRCh37
NC_000003.10:g.142281852A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13522A>C MANE Select	ENSP00000311609.2:n.694+13522A>C
ENST00000310546.2:c.694+13522A>C	ENSP00000311609.2:n.694+13522A>C
ENST00000507895.1:n.169A>C
ENST00000508126.1:c.161+13522A>C
ENST00000508828.1:n.484A>C
NM_080862.2:c.694+13522A>C	NP_543138.1:n.694+13522A>C
XM_011513313.1:c.694+13522A>C	XP_011511615.1:n.694+13522A>C
XR_924215.1:n.1459A>C
XR_924216.1:n.1459A>C
XM_017007509.2:c.*23A>C	XP_016862998.1:n.*23A>C
XR_924215.3:n.940A>C
XR_924216.3:n.940A>C
NM_080862.3:c.694+13522A>C MANE Select	NP_543138.1:n.694+13522A>C