Canonical Allele Identifier: CA85025693

Gene: SPSB4

Linked Data

• dbSNP Id: rs1544904
• gnomAD v2: 3-140799249-T-C
• gnomAD v3: 3-141080407-T-C
• gnomAD v4: 3-141080407-T-C
• MyVariant Identifiers: chr3:g.140799249T>C (hg19) ; chr3:g.141080407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080407T>C , CM000665.2:g.141080407T>C	GRCh38
NC_000003.11:g.140799249T>C , CM000665.1:g.140799249T>C	GRCh37
NC_000003.10:g.142281939T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13609T>C MANE Select	ENSP00000311609.2:n.694+13609T>C
ENST00000310546.2:c.694+13609T>C	ENSP00000311609.2:n.694+13609T>C
ENST00000507895.1:n.256T>C
ENST00000508126.1:c.161+13609T>C
NM_080862.2:c.694+13609T>C	NP_543138.1:n.694+13609T>C
XM_011513313.1:c.694+13609T>C	XP_011511615.1:n.694+13609T>C
XR_924215.1:n.1546T>C
XR_924216.1:n.1546T>C
XM_017007509.2:c.*110T>C	XP_016862998.1:n.*110T>C
XR_924215.3:n.1027T>C
XR_924216.3:n.1027T>C
NM_080862.3:c.694+13609T>C MANE Select	NP_543138.1:n.694+13609T>C