Canonical Allele Identifier: CA116846722
Gene: NPR3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.32689612C>A
GRCh37 chr5:g.32689718C>A
gnomAD v3:
5:32689612 C / A
gnomAD v4:
chr5-32689612-C-A
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
6450922
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32689612C>A , CM000667.2:g.32689612C>A GRCh38
NC_000005.9:g.32689718C>A , CM000667.1:g.32689718C>A GRCh37
NC_000005.8:g.32725475C>A NCBI36
NG_028162.2:g.5537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509104.5:c.100+426C>A ENSP00000425325.1:n.100+426C>A
XM_011514047.1:c.100+426C>A XP_011512349.1:n.100+426C>A
XM_011514047.2:c.100+426C>A XP_011512349.1:n.100+426C>A
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