Canonical Allele Identifier: CA85025664

Gene: SPSB4

Linked Data

• dbSNP Id: rs73868993
• gnomAD v2: 3-140799181-C-T
• gnomAD v3: 3-141080339-C-T
• gnomAD v4: 3-141080339-C-T
• MyVariant Identifiers: chr3:g.140799181C>T (hg19) ; chr3:g.141080339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080339C>T , CM000665.2:g.141080339C>T	GRCh38
NC_000003.11:g.140799181C>T , CM000665.1:g.140799181C>T	GRCh37
NC_000003.10:g.142281871C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310546.3:c.694+13541C>T MANE Select	ENSP00000311609.2:n.694+13541C>T
ENST00000310546.2:c.694+13541C>T	ENSP00000311609.2:n.694+13541C>T
ENST00000507895.1:n.188C>T
ENST00000508126.1:c.161+13541C>T
ENST00000508828.1:n.503C>T
NM_080862.2:c.694+13541C>T	NP_543138.1:n.694+13541C>T
XM_011513313.1:c.694+13541C>T	XP_011511615.1:n.694+13541C>T
XR_924215.1:n.1478C>T
XR_924216.1:n.1478C>T
XM_017007509.2:c.*42C>T	XP_016862998.1:n.*42C>T
XR_924215.3:n.959C>T
XR_924216.3:n.959C>T
NM_080862.3:c.694+13541C>T MANE Select	NP_543138.1:n.694+13541C>T