Canonical Allele Identifier: CA11380301
Gene: SPSB4 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.141080371G>A
GRCh37 chr3:g.140799213G>A
gnomAD v2:
3:140799213 G / A
gnomAD v3:
3:141080371 G / A
gnomAD v4:
chr3-141080371-G-A
Joint Max Group AF 0.43245974 (AFR)
Genomes Max Group AF 0.43245751 (AFR)
Exomes Max Group AF 0.16426575 (NFE)
dbSNP:
16851055
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141080371G>A , CM000665.2:g.141080371G>A GRCh38
NC_000003.11:g.140799213G>A , CM000665.1:g.140799213G>A GRCh37
NC_000003.10:g.142281903G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310546.3:c.694+13573G>A MANE Select ENSP00000311609.2:n.694+13573G>A
ENST00000310546.2:c.694+13573G>A ENSP00000311609.2:n.694+13573G>A
ENST00000507895.1:n.220G>A
ENST00000508126.1:c.161+13573G>A
ENST00000508828.1:n.535G>A
NM_080862.2:c.694+13573G>A NP_543138.1:n.694+13573G>A
XM_011513313.1:c.694+13573G>A XP_011511615.1:n.694+13573G>A
XR_924215.1:n.1510G>A
XR_924216.1:n.1510G>A
XM_017007509.2:c.*74G>A XP_016862998.1:n.*74G>A
XR_924215.3:n.991G>A
XR_924216.3:n.991G>A
NM_080862.3:c.694+13573G>A MANE Select NP_543138.1:n.694+13573G>A
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