Canonical Allele Identifier: CA7298652

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88429364C>T , CM000676.2:g.88429364C>T	GRCh38
NC_000014.8:g.88895708C>T , CM000676.1:g.88895708C>T	GRCh37
NC_000014.7:g.87965461C>T	NCBI36
NG_021183.1:g.48721C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.929C>T MANE Select	NP_060888.2:p.Thr310Ile
ENST00000393545.9:c.929C>T MANE Select	ENSP00000377176.4:p.Thr310Ile
NM_001040428.3:c.833C>T	NP_001035518.1:p.Thr278Ile
NM_001040428.4:c.833C>T	NP_001035518.1:p.Thr278Ile
NM_018418.4:c.929C>T	NP_060888.2:p.Thr310Ile
ENST00000045347.11:c.929C>T	ENSP00000045347.7:p.Thr310Ile
ENST00000356583.9:c.833C>T	ENSP00000348991.5:p.Thr278Ile
ENST00000393545.8:c.929C>T	ENSP00000377176.4:p.Thr310Ile
ENST00000553626.5:n.2708C>T
ENST00000556553.5:c.833C>T	ENSP00000451128.1:p.Thr278Ile
ENST00000556666.5:n.1476C>T
XM_005267851.1:c.932C>T	XP_005267908.1:p.Thr311Ile
XM_005267852.1:c.836C>T	XP_005267909.1:p.Thr279Ile
XM_005267852.2:c.836C>T	XP_005267909.1:p.Thr279Ile
XM_005267854.1:c.740C>T	XP_005267911.1:p.Thr247Ile
XM_005267855.1:c.740C>T	XP_005267912.1:p.Thr247Ile
XM_006720204.1:c.932C>T	XP_006720267.1:p.Thr311Ile
XM_006720205.1:c.932C>T	XP_006720268.1:p.Thr311Ile
XM_011536951.1:c.779C>T	XP_011535253.1:p.Thr260Ile
XM_011536952.1:c.761C>T	XP_011535254.1:p.Thr254Ile
XM_011536953.1:c.614C>T	XP_011535255.1:p.Thr205Ile
XM_017021452.1:c.776C>T	XP_016876941.1:p.Thr259Ile
XM_017021453.1:c.740C>T	XP_016876942.1:p.Thr247Ile
XM_017021454.1:c.737C>T	XP_016876943.1:p.Thr246Ile
XM_017021455.1:c.737C>T	XP_016876944.1:p.Thr246Ile
XM_017021456.1:c.737C>T	XP_016876945.1:p.Thr246Ile
XM_017021457.1:c.611C>T	XP_016876946.1:p.Thr204Ile
XM_024449660.1:c.758C>T	XP_024305428.1:p.Thr253Ile
XR_002957563.1:n.1000C>T