Canonical Allele Identifier: CA1054247072
Gene: SPSB4 HGNC NCBI

Linked Data

dbSNP Id: rs1938203867
gnomAD v3: 3-141080229-A-G
gnomAD v4: 3-141080229-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080229A>G , CM000665.2:g.141080229A>G GRCh38
NC_000003.11:g.140799071A>G , CM000665.1:g.140799071A>G GRCh37
NC_000003.10:g.142281761A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310546.3:c.694+13431A>G MANE Select ENSP00000311609.2:n.694+13431A>G
ENST00000310546.2:c.694+13431A>G ENSP00000311609.2:n.694+13431A>G
ENST00000507895.1:n.139-61A>G
ENST00000508126.1:c.161+13431A>G
ENST00000508828.1:n.454-61A>G
NM_080862.2:c.694+13431A>G NP_543138.1:n.694+13431A>G
XM_011513313.1:c.694+13431A>G XP_011511615.1:n.694+13431A>G
XR_924215.1:n.1429-61A>G
XR_924216.1:n.1429-61A>G
XM_017007509.2:c.695-61A>G XP_016862998.1:n.695-61A>G
XR_924215.3:n.910-61A>G
XR_924216.3:n.910-61A>G
NM_080862.3:c.694+13431A>G MANE Select NP_543138.1:n.694+13431A>G
Search 100 bp 5'
Search 100 bp 3'