Canonical Allele Identifier: CA390568536

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88433142G>T , CM000676.2:g.88433142G>T	GRCh38
NC_000014.8:g.88899486G>T , CM000676.1:g.88899486G>T	GRCh37
NC_000014.7:g.87969239G>T	NCBI36
NG_021183.1:g.52499G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.1090G>T MANE Select	NP_060888.2:p.Glu364Ter
ENST00000393545.9:c.1090G>T MANE Select	ENSP00000377176.4:p.Glu364Ter
NM_001040428.3:c.994G>T	NP_001035518.1:p.Glu332Ter
NM_001040428.4:c.994G>T	NP_001035518.1:p.Glu332Ter
NM_018418.4:c.1090G>T	NP_060888.2:p.Glu364Ter
ENST00000045347.11:c.1090G>T	ENSP00000045347.7:p.Glu364Ter
ENST00000356583.9:c.994G>T	ENSP00000348991.5:p.Glu332Ter
ENST00000393545.8:c.1090G>T	ENSP00000377176.4:p.Glu364Ter
ENST00000553303.1:n.520G>T
ENST00000553626.5:n.2869G>T
ENST00000556406.5:c.63G>T
ENST00000556553.5:c.994G>T	ENSP00000451128.1:p.Glu332Ter
ENST00000556666.5:n.1637G>T
XM_005267851.1:c.1093G>T	XP_005267908.1:p.Glu365Ter
XM_005267852.1:c.997G>T	XP_005267909.1:p.Glu333Ter
XM_005267852.2:c.997G>T	XP_005267909.1:p.Glu333Ter
XM_005267854.1:c.901G>T	XP_005267911.1:p.Glu301Ter
XM_005267855.1:c.901G>T	XP_005267912.1:p.Glu301Ter
XM_006720204.1:c.1093G>T	XP_006720267.1:p.Glu365Ter
XM_006720205.1:c.1093G>T	XP_006720268.1:p.Glu365Ter
XM_011536951.1:c.940G>T	XP_011535253.1:p.Glu314Ter
XM_011536952.1:c.922G>T	XP_011535254.1:p.Glu308Ter
XM_011536953.1:c.775G>T	XP_011535255.1:p.Glu259Ter
XM_017021452.1:c.937G>T	XP_016876941.1:p.Glu313Ter
XM_017021453.1:c.901G>T	XP_016876942.1:p.Glu301Ter
XM_017021454.1:c.898G>T	XP_016876943.1:p.Glu300Ter
XM_017021455.1:c.898G>T	XP_016876944.1:p.Glu300Ter
XM_017021456.1:c.898G>T	XP_016876945.1:p.Glu300Ter
XM_017021457.1:c.772G>T	XP_016876946.1:p.Glu258Ter
XM_024449660.1:c.919G>T	XP_024305428.1:p.Glu307Ter
XR_002957563.1:n.1271G>T