Canonical Allele Identifier: CA2264315128
Community Standard Title: NM_001130528.3(SPAG9):c.425-2195T>A
Gene: SPAG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.51058677A>T , CM000679.2:g.51058677A>T GRCh38
NC_000017.10:g.49136038A>T , CM000679.1:g.49136038A>T GRCh37
NC_000017.9:g.46491037A>T NCBI36
NG_029710.1:g.67189T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001130528.3:c.425-2195T>A MANE Select NP_001124000.1:n.425-2195T>A
ENST00000262013.12:c.425-2195T>A MANE Select ENSP00000262013.7:n.425-2195T>A
NM_001130527.2:c.425-2195T>A NP_001123999.1:n.425-2195T>A
NM_001130527.3:c.425-2195T>A NP_001123999.1:n.425-2195T>A
NM_001130528.2:c.425-2195T>A NP_001124000.1:n.425-2195T>A
NM_003971.5:c.425-2195T>A NP_003962.3:n.425-2195T>A
NM_003971.6:c.425-2195T>A NP_003962.3:n.425-2195T>A
ENST00000262013.11:c.425-2195T>A ENSP00000262013.7:n.425-2195T>A
ENST00000357122.8:c.425-2195T>A ENSP00000349636.4:n.425-2195T>A
ENST00000505279.5:c.425-2195T>A ENSP00000426900.1:n.425-2195T>A
ENST00000514613.5:n.40-2195T>A
ENST00000618113.4:c.425-2195T>A ENSP00000484908.1:n.425-2195T>A
XM_005257767.1:c.425-2195T>A XP_005257824.1:n.425-2195T>A
XM_005257768.1:c.425-2195T>A XP_005257825.1:n.425-2195T>A
XM_005257768.2:c.425-2195T>A XP_005257825.1:n.425-2195T>A
XM_005257769.1:c.425-2195T>A XP_005257826.1:n.425-2195T>A
XM_005257770.1:c.425-2195T>A XP_005257827.1:n.425-2195T>A
XM_005257771.1:c.425-2195T>A XP_005257828.1:n.425-2195T>A
XM_005257771.3:c.425-2195T>A XP_005257828.1:n.425-2195T>A
XM_006722163.1:c.-71-2195T>A XP_006722226.1:n.-71-2195T>A
XM_017025285.2:c.-71-2195T>A XP_016880774.1:n.-71-2195T>A
XR_934857.1:n.755+16122A>T