Canonical Allele Identifier: CA15775773
Gene: SPATA13 HGNC NCBI
COSMIC:
COSN6620105 (not active)
MyVariant.info:
GRCh38 chr13:g.24080089G>A
GRCh37 chr13:g.24654228G>A
gnomAD v2:
13:24654228 G / A
gnomAD v3:
13:24080089 G / A
gnomAD v4:
chr13-24080089-G-A
Joint Max Group AF 0.30408846 (NFE)
Genomes Max Group AF 0.30408846 (NFE)
dbSNP:
17079928
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24080089G>A , CM000675.2:g.24080089G>A GRCh38
NC_000013.10:g.24654228G>A , CM000675.1:g.24654228G>A GRCh37
NC_000013.9:g.23552228G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382141.4:c.-112+62388G>A ENSP00000371576.4:n.-112+62388G>A
ENST00000424834.6:c.-112+62388G>A ENSP00000398560.2:n.-112+62388G>A
NM_001286792.1:c.75+62388G>A NP_001273721.1:n.75+62388G>A
NM_001286792.2:c.75+62388G>A NP_001273721.1:n.75+62388G>A
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