Canonical Allele Identifier: CA390564139

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88426589A>G , CM000676.2:g.88426589A>G	GRCh38
NC_000014.8:g.88892933A>G , CM000676.1:g.88892933A>G	GRCh37
NC_000014.7:g.87962686A>G	NCBI36
NG_021183.1:g.45946A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.730A>G MANE Select	NP_060888.2:p.Thr244Ala
ENST00000393545.9:c.730A>G MANE Select	ENSP00000377176.4:p.Thr244Ala
NM_001040428.3:c.634A>G	NP_001035518.1:p.Thr212Ala
NM_001040428.4:c.634A>G	NP_001035518.1:p.Thr212Ala
NM_018418.4:c.730A>G	NP_060888.2:p.Thr244Ala
ENST00000045347.11:c.730A>G	ENSP00000045347.7:p.Thr244Ala
ENST00000356583.9:c.634A>G	ENSP00000348991.5:p.Thr212Ala
ENST00000393545.8:c.730A>G	ENSP00000377176.4:p.Thr244Ala
ENST00000553626.5:n.858A>G
ENST00000555515.5:c.*605A>G	ENSP00000450882.1:n.*605A>G
ENST00000556553.5:c.634A>G	ENSP00000451128.1:p.Thr212Ala
ENST00000556666.5:n.1277A>G
ENST00000557248.5:c.*450A>G	ENSP00000451690.1:n.*450A>G
XM_005267851.1:c.730A>G	XP_005267908.1:p.Thr244Ala
XM_005267852.1:c.634A>G	XP_005267909.1:p.Thr212Ala
XM_005267852.2:c.634A>G	XP_005267909.1:p.Thr212Ala
XM_005267854.1:c.538A>G	XP_005267911.1:p.Thr180Ala
XM_005267855.1:c.538A>G	XP_005267912.1:p.Thr180Ala
XM_006720204.1:c.730A>G	XP_006720267.1:p.Thr244Ala
XM_006720205.1:c.730A>G	XP_006720268.1:p.Thr244Ala
XM_011536951.1:c.577A>G	XP_011535253.1:p.Thr193Ala
XM_011536952.1:c.559A>G	XP_011535254.1:p.Thr187Ala
XM_011536953.1:c.412A>G	XP_011535255.1:p.Thr138Ala
XM_017021452.1:c.577A>G	XP_016876941.1:p.Thr193Ala
XM_017021453.1:c.538A>G	XP_016876942.1:p.Thr180Ala
XM_017021454.1:c.538A>G	XP_016876943.1:p.Thr180Ala
XM_017021455.1:c.538A>G	XP_016876944.1:p.Thr180Ala
XM_017021456.1:c.538A>G	XP_016876945.1:p.Thr180Ala
XM_017021457.1:c.412A>G	XP_016876946.1:p.Thr138Ala
XM_024449660.1:c.559A>G	XP_024305428.1:p.Thr187Ala
XR_002957563.1:n.801A>G