Canonical Allele Identifier: CA2714120780

Gene: NXPH1

Linked Data

• dbSNP Id: rs2128627764

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.8602726C>T , CM000669.2:g.8602726C>T	GRCh38
NC_000007.13:g.8642356C>T , CM000669.1:g.8642356C>T	GRCh37
NC_000007.12:g.8608881C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000405863.6:c.55-148282C>T MANE Select	ENSP00000384551.1:n.55-148282C>T
ENST00000405863.5:c.55-148282C>T	ENSP00000384551.1:n.55-148282C>T
ENST00000429542.1:c.55-148282C>T	ENSP00000408216.1:n.55-148282C>T
ENST00000438764.1:c.55-148282C>T	ENSP00000404689.1:n.55-148282C>T
NM_152745.2:c.55-148282C>T	NP_689958.1:n.55-148282C>T
XR_927017.1:n.283-8291G>A
XR_927018.1:n.348G>A
XR_927019.1:n.283-8291G>A
XR_927020.1:n.343-8291G>A
XR_001745082.2:n.3273-8291G>A
XR_001745083.2:n.573-8291G>A
XR_001745084.1:n.3273-8291G>A
XR_927017.3:n.3273-8291G>A
XR_927019.2:n.3273-8291G>A
NM_152745.3:c.55-148282C>T MANE Select	NP_689958.1:n.55-148282C>T