Canonical Allele Identifier: CA7298648

Gene: SPATA7

Linked Data

• ClinVar Variation Id: 314784
• ClinVar RCV Id: RCV000283045 ; RCV000395762
• dbSNP Id: rs185459765
• ExAC: 14:88895678 T / A
• gnomAD v2: 14-88895678-T-A
• gnomAD v3: 14-88429334-T-A
• gnomAD v4: 14-88429334-T-A
• MyVariant Identifiers: chr14:g.88895678T>A (hg19) ; chr14:g.88429334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88429334T>A , CM000676.2:g.88429334T>A	GRCh38
NC_000014.8:g.88895678T>A , CM000676.1:g.88895678T>A	GRCh37
NC_000014.7:g.87965431T>A	NCBI36
NG_021183.1:g.48691T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.913-14T>A MANE Select	ENSP00000377176.4:n.913-14T>A
ENST00000045347.11:c.913-14T>A	ENSP00000045347.7:n.913-14T>A
ENST00000356583.9:c.817-14T>A	ENSP00000348991.5:n.817-14T>A
ENST00000393545.8:c.913-14T>A	ENSP00000377176.4:n.913-14T>A
ENST00000553626.5:n.2678T>A
ENST00000556553.5:c.817-14T>A	ENSP00000451128.1:n.817-14T>A
ENST00000556666.5:n.1460-14T>A
NM_001040428.3:c.817-14T>A	NP_001035518.1:n.817-14T>A
NM_018418.4:c.913-14T>A	NP_060888.2:n.913-14T>A
XM_005267851.1:c.916-14T>A	XP_005267908.1:n.916-14T>A
XM_005267852.1:c.820-14T>A	XP_005267909.1:n.820-14T>A
XM_005267854.1:c.724-14T>A	XP_005267911.1:n.724-14T>A
XM_005267855.1:c.724-14T>A	XP_005267912.1:n.724-14T>A
XM_006720204.1:c.916-14T>A	XP_006720267.1:n.916-14T>A
XM_006720205.1:c.916-14T>A	XP_006720268.1:n.916-14T>A
XM_011536951.1:c.763-14T>A	XP_011535253.1:n.763-14T>A
XM_011536952.1:c.745-14T>A	XP_011535254.1:n.745-14T>A
XM_011536953.1:c.598-14T>A	XP_011535255.1:n.598-14T>A
XM_005267852.2:c.820-14T>A	XP_005267909.1:n.820-14T>A
XM_017021452.1:c.760-14T>A	XP_016876941.1:n.760-14T>A
XM_017021453.1:c.724-14T>A	XP_016876942.1:n.724-14T>A
XM_017021454.1:c.721-14T>A	XP_016876943.1:n.721-14T>A
XM_017021455.1:c.721-14T>A	XP_016876944.1:n.721-14T>A
XM_017021456.1:c.721-14T>A	XP_016876945.1:n.721-14T>A
XM_017021457.1:c.595-14T>A	XP_016876946.1:n.595-14T>A
XM_024449660.1:c.742-14T>A	XP_024305428.1:n.742-14T>A
XR_002957563.1:n.984-14T>A
NM_018418.5:c.913-14T>A MANE Select	NP_060888.2:n.913-14T>A
NM_001040428.4:c.817-14T>A	NP_001035518.1:n.817-14T>A