Canonical Allele Identifier: CA5675782

Gene: SH3PXD2A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103603300C>T , CM000672.2:g.103603300C>T	GRCh38
NC_000010.10:g.105363057C>T , CM000672.1:g.105363057C>T	GRCh37
NC_000010.9:g.105353047C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001394015.1:c.1918G>A MANE Select	NP_001380944.1:p.Gly640Arg
ENST00000369774.9:c.1918G>A MANE Select	ENSP00000358789.4:p.Gly640Arg
NM_001365079.1:c.1561G>A	NP_001352008.1:p.Gly521Arg
NM_001394016.1:c.1549G>A	NP_001380945.1:p.Gly517Arg
NM_001394017.1:c.1519G>A	NP_001380946.1:p.Gly507Arg
NM_001394018.1:c.1504G>A	NP_001380947.1:p.Gly502Arg
NM_001394019.1:c.1465G>A	NP_001380948.1:p.Gly489Arg
NM_001394020.1:c.1423G>A	NP_001380949.1:p.Gly475Arg
NM_001394021.1:c.1420G>A	NP_001380950.1:p.Gly474Arg
NM_001394022.1:c.1339G>A	NP_001380951.1:p.Gly447Arg
NM_001394023.1:c.1339G>A	NP_001380952.1:p.Gly447Arg
NM_014631.2:c.1834G>A	NP_055446.2:p.Gly612Arg
NM_014631.3:c.1834G>A	NP_055446.2:p.Gly612Arg
ENST00000315994.6:n.1724G>A
ENST00000355946.6:c.1834G>A	ENSP00000348215.2:p.Gly612Arg
ENST00000355946.7:c.1834G>A	ENSP00000348215.2:p.Gly612Arg
ENST00000369774.8:c.1918G>A	ENSP00000358789.4:p.Gly640Arg
ENST00000420222.1:c.1697G>A
ENST00000420222.2:n.1514G>A
ENST00000692756.1:n.1730G>A
XM_005270294.3:c.1918G>A	XP_005270351.1:p.Gly640Arg
XM_005270295.3:c.1873G>A	XP_005270352.1:p.Gly625Arg
XM_005270297.2:c.1561G>A	XP_005270354.1:p.Gly521Arg
XM_005270298.3:c.1423G>A	XP_005270355.1:p.Gly475Arg
XM_006718079.2:c.2011G>A	XP_006718142.1:p.Gly671Arg
XM_006718080.2:c.1516G>A	XP_006718143.1:p.Gly506Arg
XM_011540385.1:c.1966G>A	XP_011538687.1:p.Gly656Arg
XM_011540386.1:c.1654G>A	XP_011538688.1:p.Gly552Arg
XM_011540387.1:c.1273G>A	XP_011538689.1:p.Gly425Arg