Canonical Allele Identifier: CA8376463

Gene: NDEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8460084A>T , CM000679.2:g.8460084A>T	GRCh38
NC_000017.10:g.8363402A>T , CM000679.1:g.8363402A>T	GRCh37
NC_000017.9:g.8304127A>T	NCBI36
NG_029963.2:g.29224A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_030808.5:c.868A>T MANE Select	NP_110435.1:p.Asn290Tyr
ENST00000334527.12:c.868A>T MANE Select	ENSP00000333982.7:p.Asn290Tyr
NM_001025579.2:c.868A>T	NP_001020750.1:p.Asn290Tyr
NM_001025579.3:c.868A>T	NP_001020750.1:p.Asn290Tyr
NM_001330129.1:c.792+5197A>T	NP_001317058.1:n.792+5197A>T
NM_001330129.2:c.792+5197A>T	NP_001317058.1:n.792+5197A>T
NM_030808.4:c.868A>T	NP_110435.1:p.Asn290Tyr
ENST00000334527.11:c.868A>T	ENSP00000333982.7:p.Asn290Tyr
ENST00000380025.8:c.792+5197A>T	ENSP00000369364.4:n.792+5197A>T
ENST00000402554.7:c.868A>T	ENSP00000384963.3:p.Asn290Tyr
ENST00000581679.1:c.341A>T
ENST00000582277.5:c.425A>T
ENST00000585098.5:c.172-7067A>T	ENSP00000463492.1:n.172-7067A>T
XM_006721580.2:c.868A>T	XP_006721643.1:p.Asn290Tyr
XM_011524012.1:c.868A>T	XP_011522314.1:p.Asn290Tyr
XM_011524013.1:c.792+5197A>T	XP_011522315.1:n.792+5197A>T
XM_017025183.1:c.907A>T	XP_016880672.1:p.Asn303Tyr
XM_017025184.1:c.907A>T	XP_016880673.1:p.Asn303Tyr
XM_017025185.1:c.868A>T	XP_016880674.1:p.Asn290Tyr
XM_017025186.1:c.907A>T	XP_016880675.1:p.Asn303Tyr
XM_017025187.1:c.868A>T	XP_016880676.1:p.Asn290Tyr
XM_017025188.1:c.831+5197A>T	XP_016880677.1:n.831+5197A>T