Canonical Allele Identifier: CA3133879898
Community Standard Title: NM_001017995.3(SH3PXD2B):c.1012+51C=
Gene: SH3PXD2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172350312G= , CM000667.2:g.172350312G= GRCh38
NC_000005.9:g.171777316G= , CM000667.1:g.171777316G= GRCh37
NC_000005.8:g.171709921G= NCBI36
NG_027746.1:g.109212C=
NG_027746.2:g.109212C=

Transcript Alleles

HGVS Amino-acid Change
NM_001017995.3:c.1012+51C= MANE Select NP_001017995.1:n.1012+51C=
ENST00000311601.6:c.1012+51C= MANE Select ENSP00000309714.5:n.1012+51C=
NM_001017995.2:c.1012+51C= NP_001017995.1:n.1012+51C=
NM_001308175.1:c.1012+51C= NP_001295104.1:n.1012+51C=
NM_001308175.2:c.1012+51C= NP_001295104.1:n.1012+51C=
ENST00000311601.5:c.1012+51C= ENSP00000309714.5:n.1012+51C=
ENST00000518522.5:c.24+51C=
ENST00000519643.5:c.1012+51C= ENSP00000430890.1:n.1012+51C=
ENST00000636523.1:c.1052+51C=
XM_017009351.1:c.1096+51C= XP_016864840.1:n.1096+51C=