Canonical Allele Identifier: CA5676300
Gene: SH3PXD2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103724351C>T , CM000672.2:g.103724351C>T GRCh38
NC_000010.10:g.105484109C>T , CM000672.1:g.105484109C>T GRCh37
NC_000010.9:g.105474099C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394015.1:c.317G>A MANE Select NP_001380944.1:p.Arg106Gln
ENST00000369774.9:c.317G>A MANE Select ENSP00000358789.4:p.Arg106Gln
NM_014631.2:c.317G>A NP_055446.2:p.Arg106Gln
NM_014631.3:c.317G>A NP_055446.2:p.Arg106Gln
ENST00000355946.6:c.317G>A ENSP00000348215.2:p.Arg106Gln
ENST00000355946.7:c.317G>A ENSP00000348215.2:p.Arg106Gln
ENST00000369774.8:c.317G>A ENSP00000358789.4:p.Arg106Gln
ENST00000420222.1:c.180G>A
ENST00000687380.1:c.317G>A ENSP00000508599.1:p.Arg106Gln
ENST00000692756.1:n.174G>A
XM_005270294.3:c.317G>A XP_005270351.1:p.Arg106Gln
XM_005270295.3:c.317G>A XP_005270352.1:p.Arg106Gln
XM_006718079.2:c.317G>A XP_006718142.1:p.Arg106Gln
XM_011540385.1:c.317G>A XP_011538687.1:p.Arg106Gln