Canonical Allele Identifier: CA132178124
Gene: SH3PXD2B HGNC NCBI

Linked Data

dbSNP Id: rs747186781
gnomAD v4: 5-172333443-G-A
MyVariant Identifiers: chr5:g.171760447G>A (hg19) chr5:g.172333443G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172333443G>A , CM000667.2:g.172333443G>A GRCh38
NC_000005.9:g.171760447G>A , CM000667.1:g.171760447G>A GRCh37
NC_000005.8:g.171693052G>A NCBI36
NG_027746.1:g.126081C>T
NG_027746.2:g.126081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636523.1:c.1229-8063C>T
ENST00000519643.5:c.1189-8063C>T ENSP00000430890.1:n.1189-8063C>T
NM_001308175.1:c.1189-8063C>T NP_001295104.1:n.1189-8063C>T
NM_001308175.2:c.1189-8063C>T NP_001295104.1:n.1189-8063C>T
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