Canonical Allele Identifier: CA15523564
Gene: NXPH1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.8678450G>A
GRCh37 chr7:g.8718080G>A
gnomAD v2:
7:8718080 G / A
gnomAD v3:
7:8678450 G / A
gnomAD v4:
chr7-8678450-G-A
Joint Max Group AF 0.97612056 (EAS)
Genomes Max Group AF 0.97612056 (EAS)
dbSNP:
2349775
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.8678450G>A , CM000669.2:g.8678450G>A GRCh38
NC_000007.13:g.8718080G>A , CM000669.1:g.8718080G>A GRCh37
NC_000007.12:g.8684605G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000405863.6:c.55-72558G>A MANE Select ENSP00000384551.1:n.55-72558G>A
ENST00000405863.5:c.55-72558G>A ENSP00000384551.1:n.55-72558G>A
ENST00000429542.1:c.55-72558G>A ENSP00000408216.1:n.55-72558G>A
ENST00000438764.1:c.55-72558G>A ENSP00000404689.1:n.55-72558G>A
NM_152745.2:c.55-72558G>A NP_689958.1:n.55-72558G>A
XM_011515332.1:c.105+2820G>A XP_011513634.1:n.105+2820G>A
NM_152745.3:c.55-72558G>A MANE Select NP_689958.1:n.55-72558G>A
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