Canonical Allele Identifier: CA1054247104
Gene: SPSB4 HGNC NCBI

Linked Data

dbSNP Id: rs1938207340
gnomAD v3: 3-141080363-C-A
gnomAD v4: 3-141080363-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080363C>A , CM000665.2:g.141080363C>A GRCh38
NC_000003.11:g.140799205C>A , CM000665.1:g.140799205C>A GRCh37
NC_000003.10:g.142281895C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310546.3:c.694+13565C>A MANE Select ENSP00000311609.2:n.694+13565C>A
ENST00000310546.2:c.694+13565C>A ENSP00000311609.2:n.694+13565C>A
ENST00000507895.1:n.212C>A
ENST00000508126.1:c.161+13565C>A
ENST00000508828.1:n.527C>A
NM_080862.2:c.694+13565C>A NP_543138.1:n.694+13565C>A
XM_011513313.1:c.694+13565C>A XP_011511615.1:n.694+13565C>A
XR_924215.1:n.1502C>A
XR_924216.1:n.1502C>A
XM_017007509.2:c.*66C>A XP_016862998.1:n.*66C>A
XR_924215.3:n.983C>A
XR_924216.3:n.983C>A
NM_080862.3:c.694+13565C>A MANE Select NP_543138.1:n.694+13565C>A
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