Canonical Allele Identifier: CA390570754

Gene: SPATA7

Linked Data

• MyVariant Identifiers: chr14:g.88903941G>C (hg19) ; chr14:g.88437597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88437597G>C , CM000676.2:g.88437597G>C	GRCh38
NC_000014.8:g.88903941G>C , CM000676.1:g.88903941G>C	GRCh37
NC_000014.7:g.87973694G>C	NCBI36
NG_021183.1:g.56954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.1215G>C MANE Select	ENSP00000377176.4:p.Glu405Asp
ENST00000045347.11:c.1215G>C	ENSP00000045347.7:p.Glu405Asp
ENST00000356583.9:c.1119G>C	ENSP00000348991.5:p.Glu373Asp
ENST00000393545.8:c.1215G>C	ENSP00000377176.4:p.Glu405Asp
ENST00000553303.1:n.645G>C
ENST00000553626.5:n.2994G>C
ENST00000554802.1:c.111G>C	ENSP00000451019.1:p.Glu37Asp
ENST00000556406.5:c.188G>C
ENST00000556553.5:c.1119G>C	ENSP00000451128.1:p.Glu373Asp
ENST00000556666.5:n.1762G>C
NM_001040428.3:c.1119G>C	NP_001035518.1:p.Glu373Asp
NM_018418.4:c.1215G>C	NP_060888.2:p.Glu405Asp
XM_005267851.1:c.1218G>C	XP_005267908.1:p.Glu406Asp
XM_005267852.1:c.1122G>C	XP_005267909.1:p.Glu374Asp
XM_005267854.1:c.1026G>C	XP_005267911.1:p.Glu342Asp
XM_005267855.1:c.1026G>C	XP_005267912.1:p.Glu342Asp
XM_006720204.1:c.1218G>C	XP_006720267.1:p.Glu406Asp
XM_006720205.1:c.1218G>C	XP_006720268.1:p.Glu406Asp
XM_011536951.1:c.1065G>C	XP_011535253.1:p.Glu355Asp
XM_011536952.1:c.1047G>C	XP_011535254.1:p.Glu349Asp
XM_011536953.1:c.900G>C	XP_011535255.1:p.Glu300Asp
XM_005267852.2:c.1122G>C	XP_005267909.1:p.Glu374Asp
XM_017021452.1:c.1062G>C	XP_016876941.1:p.Glu354Asp
XM_017021453.1:c.1026G>C	XP_016876942.1:p.Glu342Asp
XM_017021454.1:c.1023G>C	XP_016876943.1:p.Glu341Asp
XM_017021455.1:c.1023G>C	XP_016876944.1:p.Glu341Asp
XM_017021456.1:c.1023G>C	XP_016876945.1:p.Glu341Asp
XM_017021457.1:c.897G>C	XP_016876946.1:p.Glu299Asp
XM_024449660.1:c.1044G>C	XP_024305428.1:p.Glu348Asp
XR_002957563.1:n.1396G>C
NM_018418.5:c.1215G>C MANE Select	NP_060888.2:p.Glu405Asp
NM_001040428.4:c.1119G>C	NP_001035518.1:p.Glu373Asp