Canonical Allele Identifier: CA682278
Gene: ASAP3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23433176C>A , CM000663.2:g.23433176C>A GRCh38
NC_000001.10:g.23759669C>A , CM000663.1:g.23759669C>A GRCh37
NC_000001.9:g.23632256C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465372.6:c.979G>T ENSP00000435394.2:p.Ala327Ser
ENST00000711425.1:c.*1875G>T ENSP00000518742.1:n.*1875G>T
ENST00000711426.1:c.2345G>T ENSP00000518743.1:n.2345G>T
ENST00000711427.1:c.1831G>T ENSP00000518744.1:p.Ala611Ser
ENST00000336689.8:c.2224G>T MANE Select ENSP00000338769.3:p.Ala742Ser
ENST00000336689.7:c.2224G>T ENSP00000338769.3:p.Ala742Ser
ENST00000437606.6:c.2197G>T ENSP00000408826.2:p.Ala733Ser
ENST00000465372.5:c.205G>T ENSP00000435394.1:p.Ala69Ser
ENST00000492982.6:c.*2121G>T ENSP00000435858.1:n.*2121G>T
ENST00000495646.5:c.736G>T ENSP00000436150.1:p.Ala246Ser
ENST00000618240.4:c.528-1353G>T ENSP00000483740.1:n.528-1353G>T
NM_001143778.1:c.2197G>T NP_001137250.1:p.Ala733Ser
NM_017707.3:c.2224G>T NP_060177.2:p.Ala742Ser
XM_011541754.1:c.2344G>T XP_011540056.1:p.Ala782Ser
XM_011541755.1:c.2293G>T XP_011540057.1:p.Ala765Ser
XM_011541756.1:c.2287G>T XP_011540058.1:p.Ala763Ser
XM_011541757.1:c.2281G>T XP_011540059.1:p.Ala761Ser
XM_011541758.1:c.2215G>T XP_011540060.1:p.Ala739Ser
XM_011541755.2:c.2293G>T XP_011540057.1:p.Ala765Ser
XM_017001685.2:c.2287G>T XP_016857174.1:p.Ala763Ser
XM_017001686.2:c.2230G>T XP_016857175.1:p.Ala744Ser
XM_017001687.1:c.2164G>T XP_016857176.1:p.Ala722Ser
XM_017001688.2:c.1894G>T XP_016857177.1:p.Ala632Ser
XM_017001689.1:c.1837G>T XP_016857178.1:p.Ala613Ser
NM_017707.4:c.2224G>T MANE Select NP_060177.2:p.Ala742Ser
NM_001143778.2:c.2197G>T NP_001137250.1:p.Ala733Ser