Canonical Allele Identifier: CA264541200

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88433212G>A , CM000676.2:g.88433212G>A	GRCh38
NC_000014.8:g.88899556G>A , CM000676.1:g.88899556G>A	GRCh37
NC_000014.7:g.87969309G>A	NCBI36
NG_021183.1:g.52569G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.1160G>A MANE Select	NP_060888.2:p.Arg387Lys
ENST00000393545.9:c.1160G>A MANE Select	ENSP00000377176.4:p.Arg387Lys
NM_001040428.3:c.1064G>A	NP_001035518.1:p.Arg355Lys
NM_001040428.4:c.1064G>A	NP_001035518.1:p.Arg355Lys
NM_018418.4:c.1160G>A	NP_060888.2:p.Arg387Lys
ENST00000045347.11:c.1160G>A	ENSP00000045347.7:p.Arg387Lys
ENST00000356583.9:c.1064G>A	ENSP00000348991.5:p.Arg355Lys
ENST00000393545.8:c.1160G>A	ENSP00000377176.4:p.Arg387Lys
ENST00000553303.1:n.590G>A
ENST00000553626.5:n.2939G>A
ENST00000554802.1:c.56G>A	ENSP00000451019.1:p.Arg19Lys
ENST00000556406.5:c.133G>A
ENST00000556553.5:c.1064G>A	ENSP00000451128.1:p.Arg355Lys
ENST00000556666.5:n.1707G>A
XM_005267851.1:c.1163G>A	XP_005267908.1:p.Arg388Lys
XM_005267852.1:c.1067G>A	XP_005267909.1:p.Arg356Lys
XM_005267852.2:c.1067G>A	XP_005267909.1:p.Arg356Lys
XM_005267854.1:c.971G>A	XP_005267911.1:p.Arg324Lys
XM_005267855.1:c.971G>A	XP_005267912.1:p.Arg324Lys
XM_006720204.1:c.1163G>A	XP_006720267.1:p.Arg388Lys
XM_006720205.1:c.1163G>A	XP_006720268.1:p.Arg388Lys
XM_011536951.1:c.1010G>A	XP_011535253.1:p.Arg337Lys
XM_011536952.1:c.992G>A	XP_011535254.1:p.Arg331Lys
XM_011536953.1:c.845G>A	XP_011535255.1:p.Arg282Lys
XM_017021452.1:c.1007G>A	XP_016876941.1:p.Arg336Lys
XM_017021453.1:c.971G>A	XP_016876942.1:p.Arg324Lys
XM_017021454.1:c.968G>A	XP_016876943.1:p.Arg323Lys
XM_017021455.1:c.968G>A	XP_016876944.1:p.Arg323Lys
XM_017021456.1:c.968G>A	XP_016876945.1:p.Arg323Lys
XM_017021457.1:c.842G>A	XP_016876946.1:p.Arg281Lys
XM_024449660.1:c.989G>A	XP_024305428.1:p.Arg330Lys
XR_002957563.1:n.1341G>A