Canonical Allele Identifier: CA378027273
Gene: SH3PXD2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103613042C>T , CM000672.2:g.103613042C>T GRCh38
NC_000010.10:g.105372799C>T , CM000672.1:g.105372799C>T GRCh37
NC_000010.9:g.105362789C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000355946.7:c.985G>A ENSP00000348215.2:p.Gly329Arg
ENST00000369774.9:c.1069G>A MANE Select ENSP00000358789.4:p.Gly357Arg
ENST00000420222.2:n.665G>A
ENST00000692756.1:n.881G>A
ENST00000315994.6:n.875G>A
ENST00000355946.6:c.985G>A ENSP00000348215.2:p.Gly329Arg
ENST00000369774.8:c.1069G>A ENSP00000358789.4:p.Gly357Arg
ENST00000420222.1:c.848G>A
NM_014631.2:c.985G>A NP_055446.2:p.Gly329Arg
XM_005270294.3:c.1069G>A XP_005270351.1:p.Gly357Arg
XM_005270295.3:c.1024G>A XP_005270352.1:p.Gly342Arg
XM_005270297.2:c.712G>A XP_005270354.1:p.Gly238Arg
XM_005270298.3:c.574G>A XP_005270355.1:p.Gly192Arg
XM_006718079.2:c.1162G>A XP_006718142.1:p.Gly388Arg
XM_006718080.2:c.667G>A XP_006718143.1:p.Gly223Arg
XM_011540385.1:c.1117G>A XP_011538687.1:p.Gly373Arg
XM_011540386.1:c.805G>A XP_011538688.1:p.Gly269Arg
XM_011540387.1:c.424G>A XP_011538689.1:p.Gly142Arg
NM_001365079.1:c.712G>A NP_001352008.1:p.Gly238Arg
NM_001394015.1:c.1069G>A MANE Select NP_001380944.1:p.Gly357Arg
NM_001394016.1:c.700G>A NP_001380945.1:p.Gly234Arg
NM_001394017.1:c.670G>A NP_001380946.1:p.Gly224Arg
NM_001394018.1:c.655G>A NP_001380947.1:p.Gly219Arg
NM_001394019.1:c.616G>A NP_001380948.1:p.Gly206Arg
NM_001394020.1:c.574G>A NP_001380949.1:p.Gly192Arg
NM_001394021.1:c.571G>A NP_001380950.1:p.Gly191Arg
NM_001394022.1:c.490G>A NP_001380951.1:p.Gly164Arg
NM_001394023.1:c.490G>A NP_001380952.1:p.Gly164Arg
NM_014631.3:c.985G>A NP_055446.2:p.Gly329Arg