Canonical Allele Identifier: CA2667974560
Gene: SPSB4 HGNC NCBI

Linked Data

gnomAD v4: 3-141080410-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080410T>C , CM000665.2:g.141080410T>C GRCh38
NC_000003.11:g.140799252T>C , CM000665.1:g.140799252T>C GRCh37
NC_000003.10:g.142281942T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310546.3:c.694+13612T>C MANE Select ENSP00000311609.2:n.694+13612T>C
ENST00000310546.2:c.694+13612T>C ENSP00000311609.2:n.694+13612T>C
ENST00000507895.1:n.257+2T>C
ENST00000508126.1:c.161+13612T>C
NM_080862.2:c.694+13612T>C NP_543138.1:n.694+13612T>C
XM_011513313.1:c.694+13612T>C XP_011511615.1:n.694+13612T>C
XR_924215.1:n.1547+2T>C
XR_924216.1:n.1547+2T>C
XM_017007509.2:c.*113T>C XP_016862998.1:n.*113T>C
XR_924215.3:n.1028+2T>C
XR_924216.3:n.1028+2T>C
NM_080862.3:c.694+13612T>C MANE Select NP_543138.1:n.694+13612T>C
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