Canonical Allele Identifier: CA132178167

Gene: SH3PXD2B

Linked Data

• dbSNP Id: rs140736481
• gnomAD v3: 5-172333459-A-G
• gnomAD v4: 5-172333459-A-G
• MyVariant Identifiers: chr5:g.171760463A>G (hg19) ; chr5:g.172333459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172333459A>G , CM000667.2:g.172333459A>G	GRCh38
NC_000005.9:g.171760463A>G , CM000667.1:g.171760463A>G	GRCh37
NC_000005.8:g.171693068A>G	NCBI36
NG_027746.1:g.126065T>C
NG_027746.2:g.126065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636523.1:c.1229-8079T>C
ENST00000519643.5:c.1189-8079T>C	ENSP00000430890.1:n.1189-8079T>C
NM_001308175.1:c.1189-8079T>C	NP_001295104.1:n.1189-8079T>C
NM_001308175.2:c.1189-8079T>C	NP_001295104.1:n.1189-8079T>C