Canonical Allele Identifier: CA2984915180

Gene: SH3PXD2B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172350300C>G , CM000667.2:g.172350300C>G	GRCh38
NC_000005.9:g.171777304C>G , CM000667.1:g.171777304C>G	GRCh37
NC_000005.8:g.171709909C>G	NCBI36
NG_027746.1:g.109224G>C
NG_027746.2:g.109224G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001017995.3:c.1012+63G>C MANE Select	NP_001017995.1:n.1012+63G>C
ENST00000311601.6:c.1012+63G>C MANE Select	ENSP00000309714.5:n.1012+63G>C
NM_001017995.2:c.1012+63G>C	NP_001017995.1:n.1012+63G>C
NM_001308175.1:c.1012+63G>C	NP_001295104.1:n.1012+63G>C
NM_001308175.2:c.1012+63G>C	NP_001295104.1:n.1012+63G>C
ENST00000311601.5:c.1012+63G>C	ENSP00000309714.5:n.1012+63G>C
ENST00000518522.5:c.24+63G>C
ENST00000519643.5:c.1012+63G>C	ENSP00000430890.1:n.1012+63G>C
ENST00000636523.1:c.1052+63G>C
XM_017009351.1:c.1096+63G>C	XP_016864840.1:n.1096+63G>C