Canonical Allele Identifier: CA2667974563
Gene: SPSB4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080413G>T , CM000665.2:g.141080413G>T GRCh38
NC_000003.11:g.140799255G>T , CM000665.1:g.140799255G>T GRCh37
NC_000003.10:g.142281945G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310546.3:c.694+13615G>T MANE Select ENSP00000311609.2:n.694+13615G>T
ENST00000310546.2:c.694+13615G>T ENSP00000311609.2:n.694+13615G>T
ENST00000507895.1:n.257+5G>T
ENST00000508126.1:c.161+13615G>T
NM_080862.2:c.694+13615G>T NP_543138.1:n.694+13615G>T
XM_011513313.1:c.694+13615G>T XP_011511615.1:n.694+13615G>T
XR_924215.1:n.1547+5G>T
XR_924216.1:n.1547+5G>T
XM_017007509.2:c.*116G>T XP_016862998.1:n.*116G>T
XR_924215.3:n.1028+5G>T
XR_924216.3:n.1028+5G>T
NM_080862.3:c.694+13615G>T MANE Select NP_543138.1:n.694+13615G>T