Canonical Allele Identifier: CA5976657
Gene: RAPSN HGNC NCBI

Linked Data

ClinVar Variation Id: 2216094
ClinVar RCV Id: RCV002665604
dbSNP Id: rs773316367

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441894C>T , CM000673.2:g.47441894C>T GRCh38
NC_000011.9:g.47463446C>T , CM000673.1:g.47463446C>T GRCh37
NC_000011.8:g.47420022C>T NCBI36
NG_008312.1:g.12285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.718G>A MANE Select ENSP00000298854.2:p.Gly240Arg
ENST00000298854.6:c.718G>A ENSP00000298854.2:p.Gly240Arg
ENST00000352508.7:c.718G>A ENSP00000298853.3:p.Gly240Arg
ENST00000524487.5:c.559G>A ENSP00000435551.2:p.Gly187Arg
ENST00000529341.1:c.718G>A ENSP00000431732.1:p.Gly240Arg
NM_005055.4:c.718G>A NP_005046.2:p.Gly240Arg
NM_032645.4:c.718G>A NP_116034.2:p.Gly240Arg
XM_005253042.2:c.718G>A XP_005253099.1:p.Gly240Arg
XM_005253043.2:c.718G>A XP_005253100.1:p.Gly240Arg
XM_011520252.1:c.718G>A XP_011518554.1:p.Gly240Arg
XM_011520253.1:c.718G>A XP_011518555.1:p.Gly240Arg
XM_005253042.3:c.718G>A XP_005253099.1:p.Gly240Arg
XM_005253043.3:c.718G>A XP_005253100.1:p.Gly240Arg
NM_005055.5:c.718G>A MANE Select NP_005046.2:p.Gly240Arg
NM_032645.5:c.718G>A NP_116034.2:p.Gly240Arg