Canonical Allele Identifier: CA11725593
Gene: STAP1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.67581531A>G
GRCh37 chr4:g.68447249A>G
gnomAD v2:
4:68447249 A / G
gnomAD v3:
4:67581531 A / G
gnomAD v4:
chr4-67581531-A-G
Joint Max Group AF 0.30802786 (SAS)
Genomes Max Group AF 0.29026893 (SAS)
Exomes Max Group AF 0.3084599 (SAS)
ClinVar RCV:
RCV001669762
ClinVar Variation:
1262529
dbSNP:
2242330
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67581531A>G , CM000666.2:g.67581531A>G GRCh38
NC_000004.11:g.68447249A>G , CM000666.1:g.68447249A>G GRCh37
NC_000004.10:g.68129844A>G NCBI36
NG_047142.1:g.27804A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265404.7:c.530+60A>G MANE Select ENSP00000265404.2:n.530+60A>G
ENST00000265404.6:c.530+60A>G ENSP00000265404.2:n.530+60A>G
ENST00000396225.1:c.530+60A>G ENSP00000379527.1:n.530+60A>G
NM_012108.2:c.530+60A>G NP_036240.1:n.530+60A>G
XM_005265675.3:c.530+60A>G XP_005265732.1:n.530+60A>G
XM_006714175.2:c.530+60A>G XP_006714238.1:n.530+60A>G
XR_427541.2:n.588+60A>G
NM_001317769.1:c.530+60A>G NP_001304698.1:n.530+60A>G
NM_012108.3:c.530+60A>G NP_036240.1:n.530+60A>G
XM_017008018.2:c.530+60A>G XP_016863507.1:n.530+60A>G
NM_012108.4:c.530+60A>G MANE Select NP_036240.1:n.530+60A>G
NM_001317769.2:c.530+60A>G NP_001304698.1:n.530+60A>G
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