Canonical Allele Identifier: CA390543409

Gene: SPATA7

Linked Data

• ClinVar Variation Id: 1058010
• ClinVar RCV Id: RCV001367097
• dbSNP Id: rs2139846013
• MyVariant Identifiers: chr14:g.88852172A>C (hg19) ; chr14:g.88385828A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88385828A>C , CM000676.2:g.88385828A>C	GRCh38
NC_000014.8:g.88852172A>C , CM000676.1:g.88852172A>C	GRCh37
NC_000014.7:g.87921925A>C	NCBI36
NG_021183.1:g.5185A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.10A>C MANE Select	ENSP00000377176.4:p.Ser4Arg
ENST00000045347.11:c.10A>C	ENSP00000045347.7:p.Ser4Arg
ENST00000356583.9:c.10A>C	ENSP00000348991.5:p.Ser4Arg
ENST00000393545.8:c.10A>C	ENSP00000377176.4:p.Ser4Arg
ENST00000553626.5:n.138A>C
ENST00000553885.5:c.10A>C	ENSP00000450606.1:p.Ser4Arg
ENST00000553908.5:c.10A>C	ENSP00000452546.1:p.Ser4Arg
ENST00000554102.5:n.153A>C
ENST00000554168.5:c.10A>C	ENSP00000451663.1:p.Ser4Arg
ENST00000555356.5:c.10A>C	ENSP00000450654.1:p.Ser4Arg
ENST00000555401.5:c.10A>C	ENSP00000452435.1:p.Ser4Arg
ENST00000555515.5:c.10A>C	ENSP00000450882.1:p.Ser4Arg
ENST00000555534.5:c.10A>C	ENSP00000450515.1:p.Ser4Arg
ENST00000555715.5:c.10A>C	ENSP00000451181.1:p.Ser4Arg
ENST00000556553.5:c.10A>C	ENSP00000451128.1:p.Ser4Arg
ENST00000556870.5:c.10A>C	ENSP00000452359.1:p.Ser4Arg
ENST00000557248.5:c.10A>C	ENSP00000451690.1:p.Ser4Arg
ENST00000557567.1:n.129A>C
ENST00000557724.5:c.10A>C	ENSP00000452364.1:p.Ser4Arg
NM_001040428.3:c.10A>C	NP_001035518.1:p.Ser4Arg
NM_018418.4:c.10A>C	NP_060888.2:p.Ser4Arg
XM_005267851.1:c.10A>C	XP_005267908.1:p.Ser4Arg
XM_005267852.1:c.10A>C	XP_005267909.1:p.Ser4Arg
XM_005267854.1:c.-245A>C	XP_005267911.1:n.-245A>C
XM_005267855.1:c.-149A>C	XP_005267912.1:n.-149A>C
XM_006720204.1:c.10A>C	XP_006720267.1:p.Ser4Arg
XM_006720205.1:c.10A>C	XP_006720268.1:p.Ser4Arg
XM_011536951.1:c.-338A>C	XP_011535253.1:n.-338A>C
XM_011536952.1:c.10A>C	XP_011535254.1:p.Ser4Arg
XM_011536953.1:c.-407A>C	XP_011535255.1:n.-407A>C
XM_005267852.2:c.10A>C	XP_005267909.1:p.Ser4Arg
XM_017021452.1:c.-338A>C	XP_016876941.1:n.-338A>C
XM_017021453.1:c.-343A>C	XP_016876942.1:n.-343A>C
XM_017021454.1:c.-245A>C	XP_016876943.1:n.-245A>C
XM_017021455.1:c.-149A>C	XP_016876944.1:n.-149A>C
XM_017021457.1:c.-407A>C	XP_016876946.1:n.-407A>C
XM_024449660.1:c.10A>C	XP_024305428.1:p.Ser4Arg
XR_002957563.1:n.177A>C
NM_018418.5:c.10A>C MANE Select	NP_060888.2:p.Ser4Arg
NM_001040428.4:c.10A>C	NP_001035518.1:p.Ser4Arg