Canonical Allele Identifier: CA98655609
Community Standard Title: NM_012108.4(STAP1):c.530+68G>A
Gene: STAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67581539G>A , CM000666.2:g.67581539G>A GRCh38
NC_000004.11:g.68447257G>A , CM000666.1:g.68447257G>A GRCh37
NC_000004.10:g.68129852G>A NCBI36
NG_047142.1:g.27812G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012108.4:c.530+68G>A MANE Select NP_036240.1:n.530+68G>A
ENST00000265404.7:c.530+68G>A MANE Select ENSP00000265404.2:n.530+68G>A
NM_001317769.1:c.530+68G>A NP_001304698.1:n.530+68G>A
NM_001317769.2:c.530+68G>A NP_001304698.1:n.530+68G>A
NM_012108.2:c.530+68G>A NP_036240.1:n.530+68G>A
NM_012108.3:c.530+68G>A NP_036240.1:n.530+68G>A
ENST00000265404.6:c.530+68G>A ENSP00000265404.2:n.530+68G>A
ENST00000396225.1:c.530+68G>A ENSP00000379527.1:n.530+68G>A
XM_005265675.3:c.530+68G>A XP_005265732.1:n.530+68G>A
XM_006714175.2:c.530+68G>A XP_006714238.1:n.530+68G>A
XM_017008018.2:c.530+68G>A XP_016863507.1:n.530+68G>A
XR_427541.2:n.588+68G>A