Canonical Allele Identifier: CA174826

Gene: SPATA18

Linked Data

• ClinVar Variation Id: 161809
• ClinVar RCV Id: RCV000149345
• dbSNP Id: rs193921037
• ExAC: 4:52943177 G / A
• gnomAD v2: 4-52943177-G-A
• gnomAD v4: 4-52077011-G-A
• COSMIC: COSM1179036 ; COSM1179037
• MyVariant Identifiers: chr4:g.52943177G>A (hg19) ; chr4:g.52077011G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52077011G>A , CM000666.2:g.52077011G>A	GRCh38
NC_000004.11:g.52943177G>A , CM000666.1:g.52943177G>A	GRCh37
NC_000004.10:g.52637934G>A	NCBI36
NG_051630.1:g.30681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295213.9:c.991G>A MANE Select	ENSP00000295213.4:p.Val331Ile
ENST00000295213.8:c.991G>A	ENSP00000295213.4:p.Val331Ile
ENST00000419395.6:c.895G>A	ENSP00000415309.2:p.Val299Ile
ENST00000505320.5:c.991G>A	ENSP00000421204.1:p.Val331Ile
ENST00000511028.1:n.1277G>A
NM_001297608.1:c.895G>A	NP_001284537.1:p.Val299Ile
NM_145263.3:c.991G>A	NP_660306.1:p.Val331Ile
NR_123728.1:n.1365G>A
XM_005265716.1:c.580G>A	XP_005265773.1:p.Val194Ile
XM_005265717.2:c.991G>A	XP_005265774.1:p.Val331Ile
XM_005265718.1:c.316G>A	XP_005265775.1:p.Val106Ile
XM_011534369.1:c.676G>A	XP_011532671.1:p.Val226Ile
XM_011534370.1:c.601G>A	XP_011532672.1:p.Val201Ile
XM_011534371.1:c.583G>A	XP_011532673.1:p.Val195Ile
XM_011534372.1:c.316G>A	XP_011532674.1:p.Val106Ile
XR_941044.1:n.1280G>A
NM_001346102.1:c.580G>A	NP_001333031.1:p.Val194Ile
NM_001346103.1:c.316G>A	NP_001333032.1:p.Val106Ile
NR_144359.1:n.934G>A
XM_017007731.2:c.631G>A	XP_016863220.1:p.Val211Ile
XM_024453891.1:c.340G>A	XP_024309659.1:p.Val114Ile
XR_002959709.1:n.1071G>A
NM_145263.4:c.991G>A MANE Select	NP_660306.1:p.Val331Ile
NM_001297608.2:c.895G>A	NP_001284537.1:p.Val299Ile
NM_001346102.2:c.580G>A	NP_001333031.1:p.Val194Ile
NM_001346103.2:c.316G>A	NP_001333032.1:p.Val106Ile
NR_123728.2:n.1392G>A
NR_144359.2:n.961G>A