Canonical Allele Identifier: CA390570729

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88437592G>T , CM000676.2:g.88437592G>T	GRCh38
NC_000014.8:g.88903936G>T , CM000676.1:g.88903936G>T	GRCh37
NC_000014.7:g.87973689G>T	NCBI36
NG_021183.1:g.56949G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.1210G>T MANE Select	NP_060888.2:p.Glu404Ter
ENST00000393545.9:c.1210G>T MANE Select	ENSP00000377176.4:p.Glu404Ter
NM_001040428.3:c.1114G>T	NP_001035518.1:p.Glu372Ter
NM_001040428.4:c.1114G>T	NP_001035518.1:p.Glu372Ter
NM_018418.4:c.1210G>T	NP_060888.2:p.Glu404Ter
ENST00000045347.11:c.1210G>T	ENSP00000045347.7:p.Glu404Ter
ENST00000356583.9:c.1114G>T	ENSP00000348991.5:p.Glu372Ter
ENST00000393545.8:c.1210G>T	ENSP00000377176.4:p.Glu404Ter
ENST00000553303.1:n.640G>T
ENST00000553626.5:n.2989G>T
ENST00000554802.1:c.106G>T	ENSP00000451019.1:p.Glu36Ter
ENST00000556406.5:c.183G>T
ENST00000556553.5:c.1114G>T	ENSP00000451128.1:p.Glu372Ter
ENST00000556666.5:n.1757G>T
XM_005267851.1:c.1213G>T	XP_005267908.1:p.Glu405Ter
XM_005267852.1:c.1117G>T	XP_005267909.1:p.Glu373Ter
XM_005267852.2:c.1117G>T	XP_005267909.1:p.Glu373Ter
XM_005267854.1:c.1021G>T	XP_005267911.1:p.Glu341Ter
XM_005267855.1:c.1021G>T	XP_005267912.1:p.Glu341Ter
XM_006720204.1:c.1213G>T	XP_006720267.1:p.Glu405Ter
XM_006720205.1:c.1213G>T	XP_006720268.1:p.Glu405Ter
XM_011536951.1:c.1060G>T	XP_011535253.1:p.Glu354Ter
XM_011536952.1:c.1042G>T	XP_011535254.1:p.Glu348Ter
XM_011536953.1:c.895G>T	XP_011535255.1:p.Glu299Ter
XM_017021452.1:c.1057G>T	XP_016876941.1:p.Glu353Ter
XM_017021453.1:c.1021G>T	XP_016876942.1:p.Glu341Ter
XM_017021454.1:c.1018G>T	XP_016876943.1:p.Glu340Ter
XM_017021455.1:c.1018G>T	XP_016876944.1:p.Glu340Ter
XM_017021456.1:c.1018G>T	XP_016876945.1:p.Glu340Ter
XM_017021457.1:c.892G>T	XP_016876946.1:p.Glu298Ter
XM_024449660.1:c.1039G>T	XP_024305428.1:p.Glu347Ter
XR_002957563.1:n.1391G>T