Canonical Allele Identifier: CA2667974510
Gene: SPSB4 HGNC NCBI

Linked Data

gnomAD v4: 3-141080313-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080313A>G , CM000665.2:g.141080313A>G GRCh38
NC_000003.11:g.140799155A>G , CM000665.1:g.140799155A>G GRCh37
NC_000003.10:g.142281845A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000310546.3:c.694+13515A>G MANE Select ENSP00000311609.2:n.694+13515A>G
ENST00000310546.2:c.694+13515A>G ENSP00000311609.2:n.694+13515A>G
ENST00000507895.1:n.162A>G
ENST00000508126.1:c.161+13515A>G
ENST00000508828.1:n.477A>G
NM_080862.2:c.694+13515A>G NP_543138.1:n.694+13515A>G
XM_011513313.1:c.694+13515A>G XP_011511615.1:n.694+13515A>G
XR_924215.1:n.1452A>G
XR_924216.1:n.1452A>G
XM_017007509.2:c.*16A>G XP_016862998.1:n.*16A>G
XR_924215.3:n.933A>G
XR_924216.3:n.933A>G
NM_080862.3:c.694+13515A>G MANE Select NP_543138.1:n.694+13515A>G
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