Canonical Allele Identifier: CA7298655

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88429372G>A , CM000676.2:g.88429372G>A	GRCh38
NC_000014.8:g.88895716G>A , CM000676.1:g.88895716G>A	GRCh37
NC_000014.7:g.87965469G>A	NCBI36
NG_021183.1:g.48729G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.937G>A MANE Select	NP_060888.2:p.Ala313Thr
ENST00000393545.9:c.937G>A MANE Select	ENSP00000377176.4:p.Ala313Thr
NM_001040428.3:c.841G>A	NP_001035518.1:p.Ala281Thr
NM_001040428.4:c.841G>A	NP_001035518.1:p.Ala281Thr
NM_018418.4:c.937G>A	NP_060888.2:p.Ala313Thr
ENST00000045347.11:c.937G>A	ENSP00000045347.7:p.Ala313Thr
ENST00000356583.9:c.841G>A	ENSP00000348991.5:p.Ala281Thr
ENST00000393545.8:c.937G>A	ENSP00000377176.4:p.Ala313Thr
ENST00000553626.5:n.2716G>A
ENST00000556553.5:c.841G>A	ENSP00000451128.1:p.Ala281Thr
ENST00000556666.5:n.1484G>A
XM_005267851.1:c.940G>A	XP_005267908.1:p.Ala314Thr
XM_005267852.1:c.844G>A	XP_005267909.1:p.Ala282Thr
XM_005267852.2:c.844G>A	XP_005267909.1:p.Ala282Thr
XM_005267854.1:c.748G>A	XP_005267911.1:p.Ala250Thr
XM_005267855.1:c.748G>A	XP_005267912.1:p.Ala250Thr
XM_006720204.1:c.940G>A	XP_006720267.1:p.Ala314Thr
XM_006720205.1:c.940G>A	XP_006720268.1:p.Ala314Thr
XM_011536951.1:c.787G>A	XP_011535253.1:p.Ala263Thr
XM_011536952.1:c.769G>A	XP_011535254.1:p.Ala257Thr
XM_011536953.1:c.622G>A	XP_011535255.1:p.Ala208Thr
XM_017021452.1:c.784G>A	XP_016876941.1:p.Ala262Thr
XM_017021453.1:c.748G>A	XP_016876942.1:p.Ala250Thr
XM_017021454.1:c.745G>A	XP_016876943.1:p.Ala249Thr
XM_017021455.1:c.745G>A	XP_016876944.1:p.Ala249Thr
XM_017021456.1:c.745G>A	XP_016876945.1:p.Ala249Thr
XM_017021457.1:c.619G>A	XP_016876946.1:p.Ala207Thr
XM_024449660.1:c.766G>A	XP_024305428.1:p.Ala256Thr
XR_002957563.1:n.1008G>A