Canonical Allele Identifier: CA356872637

Gene: SPATA18

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52072044C>G , CM000666.2:g.52072044C>G	GRCh38
NC_000004.11:g.52938210C>G , CM000666.1:g.52938210C>G	GRCh37
NC_000004.10:g.52632967C>G	NCBI36
NG_051630.1:g.25714C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_145263.4:c.646C>G MANE Select	NP_660306.1:p.Gln216Glu
ENST00000295213.9:c.646C>G MANE Select	ENSP00000295213.4:p.Gln216Glu
NM_001297608.1:c.550C>G	NP_001284537.1:p.Gln184Glu
NM_001297608.2:c.550C>G	NP_001284537.1:p.Gln184Glu
NM_001346102.1:c.235C>G	NP_001333031.1:p.Gln79Glu
NM_001346102.2:c.235C>G	NP_001333031.1:p.Gln79Glu
NM_001346103.1:c.-30C>G	NP_001333032.1:n.-30C>G
NM_001346103.2:c.-30C>G	NP_001333032.1:n.-30C>G
NM_145263.3:c.646C>G	NP_660306.1:p.Gln216Glu
NR_123728.1:n.1020C>G
NR_123728.2:n.1047C>G
NR_144359.1:n.589C>G
NR_144359.2:n.616C>G
ENST00000295213.8:c.646C>G	ENSP00000295213.4:p.Gln216Glu
ENST00000419395.6:c.550C>G	ENSP00000415309.2:p.Gln184Glu
ENST00000505320.5:c.646C>G	ENSP00000421204.1:p.Gln216Glu
ENST00000506829.5:n.508C>G
ENST00000511028.1:n.932C>G
ENST00000514670.1:n.384-4735C>G
XM_005265716.1:c.235C>G	XP_005265773.1:p.Gln79Glu
XM_005265717.2:c.646C>G	XP_005265774.1:p.Gln216Glu
XM_005265718.1:c.-30C>G	XP_005265775.1:n.-30C>G
XM_011534369.1:c.331C>G	XP_011532671.1:p.Gln111Glu
XM_011534370.1:c.256C>G	XP_011532672.1:p.Gln86Glu
XM_011534371.1:c.238C>G	XP_011532673.1:p.Gln80Glu
XM_011534372.1:c.-30C>G	XP_011532674.1:n.-30C>G
XM_017007731.2:c.286C>G	XP_016863220.1:p.Gln96Glu
XM_024453891.1:c.108-4735C>G	XP_024309659.1:n.108-4735C>G
XR_002959709.1:n.726C>G
XR_941044.1:n.935C>G