Canonical Allele Identifier: CA230369966
Gene: SPA17 HGNC NCBI
SIAE HGNC NCBI
ClinVar RCV:
RCV004140453
ClinVar Variation:
2294326
dbSNP:
767147209
gnomAD v2:
11:124551291 A / G
gnomAD v3:
11:124681395 A / G
gnomAD v4:
chr11-124681395-A-G
Joint Max Group AF 0.00000627 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000542 (NFE)
MyVariant.info:
GRCh38 chr11:g.124681395A>G
GRCh37 chr11:g.124551291A>G
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124681395A>G , CM000673.2:g.124681395A>G GRCh38
NC_000011.9:g.124551291A>G , CM000673.1:g.124551291A>G GRCh37
NC_000011.8:g.124056501A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000227135.7:c.161A>G (SPA17) MANE Select ENSP00000227135.2:p.Asn54Ser
ENST00000227135.6:c.161A>G (SPA17) ENSP00000227135.2:p.Asn54Ser
ENST00000524614.1:n.112A>G (SPA17)
ENST00000525730.1:n.339-5993T>C (SIAE)
ENST00000532692.1:c.161A>G (SPA17) ENSP00000432305.1:p.Asn54Ser
NM_017425.3:c.161A>G (SPA17) NP_059121.1:p.Asn54Ser
XM_011542870.1:c.161A>G (SPA17) XP_011541172.1:p.Asn54Ser
XM_011542870.2:c.161A>G (SPA17) XP_011541172.1:p.Asn54Ser
XM_024448583.1:c.161A>G (SPA17) XP_024304351.1:p.Asn54Ser
NM_017425.4:c.161A>G (SPA17) MANE Select NP_059121.1:p.Asn54Ser
Search 100 bp 5'
Search 100 bp 3'