Canonical Allele Identifier: CA12064188
Gene: CATSPER3 HGNC NCBI
PCBD2 HGNC NCBI
dbSNP:
299362
gnomAD v2:
5:134321546 G / A
gnomAD v3:
5:134985856 G / A
gnomAD v4:
chr5-134985856-G-A
Joint Max Group AF 0.96428534 (AFR)
Genomes Max Group AF 0.96428534 (AFR)
MyVariant.info:
GRCh38 chr5:g.134985856G>A
GRCh37 chr5:g.134321546G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134985856G>A , CM000667.2:g.134985856G>A GRCh38
NC_000005.9:g.134321546G>A , CM000667.1:g.134321546G>A GRCh37
NC_000005.8:g.134349445G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282611.8:c.253-10417G>A (CATSPER3) MANE Select ENSP00000282611.6:n.253-10417G>A
ENST00000282611.7:c.253-10417G>A (CATSPER3) ENSP00000282611.6:n.253-10417G>A
ENST00000504352.1:c.719-10417G>A (PCBD2) ENSP00000426161.1:n.719-10417G>A
ENST00000511235.1:n.338-9785G>A (CATSPER3)
NM_178019.2:c.253-10417G>A (CATSPER3) NP_821138.1:n.253-10417G>A
NM_178019.3:c.253-10417G>A (CATSPER3) MANE Select NP_821138.1:n.253-10417G>A
Search 100 bp 5'
Search 100 bp 3'