Canonical Allele Identifier: CA264525981

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88416845G>A , CM000676.2:g.88416845G>A	GRCh38
NC_000014.8:g.88883189G>A , CM000676.1:g.88883189G>A	GRCh37
NC_000014.7:g.87952942G>A	NCBI36
NG_021183.1:g.36202G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.372+1G>A MANE Select	NP_060888.2:n.372+1G>A
ENST00000393545.9:c.372+1G>A MANE Select	ENSP00000377176.4:n.372+1G>A
NM_001040428.3:c.276+1G>A	NP_001035518.1:n.276+1G>A
NM_001040428.4:c.276+1G>A	NP_001035518.1:n.276+1G>A
NM_018418.4:c.372+1G>A	NP_060888.2:n.372+1G>A
ENST00000045347.11:c.372+1G>A	ENSP00000045347.7:n.372+1G>A
ENST00000356583.9:c.276+1G>A	ENSP00000348991.5:n.276+1G>A
ENST00000393545.8:c.372+1G>A	ENSP00000377176.4:n.372+1G>A
ENST00000553626.5:n.500+1G>A
ENST00000553885.5:c.330+1G>A	ENSP00000450606.1:n.330+1G>A
ENST00000553908.5:c.*247+1G>A	ENSP00000452546.1:n.*247+1G>A
ENST00000555401.5:c.201+1G>A	ENSP00000452435.1:n.201+1G>A
ENST00000555515.5:c.*247+1G>A	ENSP00000450882.1:n.*247+1G>A
ENST00000555534.5:c.*176+1G>A	ENSP00000450515.1:n.*176+1G>A
ENST00000556553.5:c.276+1G>A	ENSP00000451128.1:n.276+1G>A
ENST00000556666.5:n.919+1G>A
ENST00000556870.5:c.*176+1G>A	ENSP00000452359.1:n.*176+1G>A
ENST00000557248.5:c.*92+1G>A	ENSP00000451690.1:n.*92+1G>A
XM_005267851.1:c.372+1G>A	XP_005267908.1:n.372+1G>A
XM_005267852.1:c.276+1G>A	XP_005267909.1:n.276+1G>A
XM_005267852.2:c.276+1G>A	XP_005267909.1:n.276+1G>A
XM_005267854.1:c.180+1G>A	XP_005267911.1:n.180+1G>A
XM_005267855.1:c.180+1G>A	XP_005267912.1:n.180+1G>A
XM_006720204.1:c.372+1G>A	XP_006720267.1:n.372+1G>A
XM_006720205.1:c.372+1G>A	XP_006720268.1:n.372+1G>A
XM_011536951.1:c.219+1G>A	XP_011535253.1:n.219+1G>A
XM_011536952.1:c.201+1G>A	XP_011535254.1:n.201+1G>A
XM_011536953.1:c.54+1G>A	XP_011535255.1:n.54+1G>A
XM_017021452.1:c.219+1G>A	XP_016876941.1:n.219+1G>A
XM_017021453.1:c.180+1G>A	XP_016876942.1:n.180+1G>A
XM_017021454.1:c.180+1G>A	XP_016876943.1:n.180+1G>A
XM_017021455.1:c.180+1G>A	XP_016876944.1:n.180+1G>A
XM_017021456.1:c.180+1G>A	XP_016876945.1:n.180+1G>A
XM_017021457.1:c.54+1G>A	XP_016876946.1:n.54+1G>A
XM_024449660.1:c.201+1G>A	XP_024305428.1:n.201+1G>A
XR_002957563.1:n.443+1G>A