Canonical Allele Identifier: CA235914

Gene: SPATA7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88416760T>A , CM000676.2:g.88416760T>A	GRCh38
NC_000014.8:g.88883104T>A , CM000676.1:g.88883104T>A	GRCh37
NC_000014.7:g.87952857T>A	NCBI36
NG_021183.1:g.36117T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.288T>A MANE Select	ENSP00000377176.4:p.Cys96Ter
ENST00000045347.11:c.288T>A	ENSP00000045347.7:p.Cys96Ter
ENST00000356583.9:c.192T>A	ENSP00000348991.5:p.Cys64Ter
ENST00000393545.8:c.288T>A	ENSP00000377176.4:p.Cys96Ter
ENST00000553626.5:n.416T>A
ENST00000553885.5:c.246T>A	ENSP00000450606.1:p.Cys82Ter
ENST00000553908.5:c.*163T>A	ENSP00000452546.1:n.*163T>A
ENST00000554168.5:c.*245T>A	ENSP00000451663.1:n.*245T>A
ENST00000555356.5:c.*304T>A	ENSP00000450654.1:n.*304T>A
ENST00000555401.5:c.117T>A	ENSP00000452435.1:p.Cys39Ter
ENST00000555515.5:c.*163T>A	ENSP00000450882.1:n.*163T>A
ENST00000555534.5:c.*92T>A	ENSP00000450515.1:n.*92T>A
ENST00000556553.5:c.192T>A	ENSP00000451128.1:p.Cys64Ter
ENST00000556666.5:n.835T>A
ENST00000556870.5:c.*92T>A	ENSP00000452359.1:n.*92T>A
ENST00000557248.5:c.*8T>A	ENSP00000451690.1:n.*8T>A
NM_001040428.3:c.192T>A	NP_001035518.1:p.Cys64Ter
NM_018418.4:c.288T>A	NP_060888.2:p.Cys96Ter
XM_005267851.1:c.288T>A	XP_005267908.1:p.Cys96Ter
XM_005267852.1:c.192T>A	XP_005267909.1:p.Cys64Ter
XM_005267854.1:c.96T>A	XP_005267911.1:p.Cys32Ter
XM_005267855.1:c.96T>A	XP_005267912.1:p.Cys32Ter
XM_006720204.1:c.288T>A	XP_006720267.1:p.Cys96Ter
XM_006720205.1:c.288T>A	XP_006720268.1:p.Cys96Ter
XM_011536951.1:c.135T>A	XP_011535253.1:p.Cys45Ter
XM_011536952.1:c.117T>A	XP_011535254.1:p.Cys39Ter
XM_011536953.1:c.-31T>A	XP_011535255.1:n.-31T>A
XM_005267852.2:c.192T>A	XP_005267909.1:p.Cys64Ter
XM_017021452.1:c.135T>A	XP_016876941.1:p.Cys45Ter
XM_017021453.1:c.96T>A	XP_016876942.1:p.Cys32Ter
XM_017021454.1:c.96T>A	XP_016876943.1:p.Cys32Ter
XM_017021455.1:c.96T>A	XP_016876944.1:p.Cys32Ter
XM_017021456.1:c.96T>A	XP_016876945.1:p.Cys32Ter
XM_017021457.1:c.-31T>A	XP_016876946.1:n.-31T>A
XM_024449660.1:c.117T>A	XP_024305428.1:p.Cys39Ter
XR_002957563.1:n.359T>A
NM_018418.5:c.288T>A MANE Select	NP_060888.2:p.Cys96Ter
NM_001040428.4:c.192T>A	NP_001035518.1:p.Cys64Ter