Canonical Allele Identifier: CA274500

Gene: SPATA7

Linked Data

• ClinVar Variation Id: 189245
• ClinVar RCV Id: RCV000169677
• dbSNP Id: rs786204787
• gnomAD v4: 14-88391457-T-C
• MyVariant Identifiers: chr14:g.88857801T>C (hg19) ; chr14:g.88391457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88391457T>C , CM000676.2:g.88391457T>C	GRCh38
NC_000014.8:g.88857801T>C , CM000676.1:g.88857801T>C	GRCh37
NC_000014.7:g.87927554T>C	NCBI36
NG_021183.1:g.10814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.94+2T>C MANE Select	ENSP00000377176.4:n.94+2T>C
ENST00000045347.11:c.94+2T>C	ENSP00000045347.7:n.94+2T>C
ENST00000356583.9:c.94+2T>C	ENSP00000348991.5:n.94+2T>C
ENST00000393545.8:c.94+2T>C	ENSP00000377176.4:n.94+2T>C
ENST00000553626.5:n.222+2T>C
ENST00000553885.5:c.94+2T>C	ENSP00000450606.1:n.94+2T>C
ENST00000553908.5:c.94+2T>C	ENSP00000452546.1:n.94+2T>C
ENST00000554102.5:n.237+2T>C
ENST00000554168.5:c.*147+2T>C	ENSP00000451663.1:n.*147+2T>C
ENST00000555356.5:c.*147+2T>C	ENSP00000450654.1:n.*147+2T>C
ENST00000555401.5:c.20-4699T>C	ENSP00000452435.1:n.20-4699T>C
ENST00000555515.5:c.94+2T>C	ENSP00000450882.1:n.94+2T>C
ENST00000555534.5:c.94+2T>C	ENSP00000450515.1:n.94+2T>C
ENST00000555715.5:c.94+2T>C	ENSP00000451181.1:n.94+2T>C
ENST00000556553.5:c.94+2T>C	ENSP00000451128.1:n.94+2T>C
ENST00000556870.5:c.94+2T>C	ENSP00000452359.1:n.94+2T>C
ENST00000557248.5:c.94+2T>C	ENSP00000451690.1:n.94+2T>C
ENST00000557567.1:n.213+2T>C
ENST00000557724.5:c.*147+2T>C	ENSP00000452364.1:n.*147+2T>C
NM_001040428.3:c.94+2T>C	NP_001035518.1:n.94+2T>C
NM_018418.4:c.94+2T>C	NP_060888.2:n.94+2T>C
XM_005267851.1:c.94+2T>C	XP_005267908.1:n.94+2T>C
XM_005267852.1:c.94+2T>C	XP_005267909.1:n.94+2T>C
XM_005267854.1:c.-161+2T>C	XP_005267911.1:n.-161+2T>C
XM_005267855.1:c.-65+2T>C	XP_005267912.1:n.-65+2T>C
XM_006720204.1:c.94+2T>C	XP_006720267.1:n.94+2T>C
XM_006720205.1:c.94+2T>C	XP_006720268.1:n.94+2T>C
XM_011536951.1:c.-60+2T>C	XP_011535253.1:n.-60+2T>C
XM_011536952.1:c.20-4699T>C	XP_011535254.1:n.20-4699T>C
XM_011536953.1:c.-129+2T>C	XP_011535255.1:n.-129+2T>C
XM_005267852.2:c.94+2T>C	XP_005267909.1:n.94+2T>C
XM_017021452.1:c.-60+2T>C	XP_016876941.1:n.-60+2T>C
XM_017021453.1:c.-65+2T>C	XP_016876942.1:n.-65+2T>C
XM_017021454.1:c.-161+2T>C	XP_016876943.1:n.-161+2T>C
XM_017021455.1:c.-65+2T>C	XP_016876944.1:n.-65+2T>C
XM_017021456.1:c.-161+2T>C	XP_016876945.1:n.-161+2T>C
XM_017021457.1:c.-129+2T>C	XP_016876946.1:n.-129+2T>C
XM_024449660.1:c.20-4699T>C	XP_024305428.1:n.20-4699T>C
XR_002957563.1:n.261+2T>C
NM_018418.5:c.94+2T>C MANE Select	NP_060888.2:n.94+2T>C
NM_001040428.4:c.94+2T>C	NP_001035518.1:n.94+2T>C