Canonical Allele Identifier: CA899796020
Gene: SPSB4 HGNC NCBI

Linked Data

dbSNP Id: rs1229965111
gnomAD v3: 3-141080277-G-A
gnomAD v4: 3-141080277-G-A
MyVariant Identifiers: chr3:g.140799119G>A (hg19) chr3:g.141080277G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080277G>A , CM000665.2:g.141080277G>A GRCh38
NC_000003.11:g.140799119G>A , CM000665.1:g.140799119G>A GRCh37
NC_000003.10:g.142281809G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000310546.3:c.694+13479G>A MANE Select ENSP00000311609.2:n.694+13479G>A
ENST00000310546.2:c.694+13479G>A ENSP00000311609.2:n.694+13479G>A
ENST00000507895.1:n.139-13G>A
ENST00000508126.1:c.161+13479G>A
ENST00000508828.1:n.454-13G>A
NM_080862.2:c.694+13479G>A NP_543138.1:n.694+13479G>A
XM_011513313.1:c.694+13479G>A XP_011511615.1:n.694+13479G>A
XR_924215.1:n.1429-13G>A
XR_924216.1:n.1429-13G>A
XM_017007509.2:c.695-13G>A XP_016862998.1:n.695-13G>A
XR_924215.3:n.910-13G>A
XR_924216.3:n.910-13G>A
NM_080862.3:c.694+13479G>A MANE Select NP_543138.1:n.694+13479G>A
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