Canonical Allele Identifier: CA5976611
Gene: RAPSN HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47441702C>T
GRCh37 chr11:g.47463254C>T
Revel Score:
ENST00000298854 (MANE Select) 0.232
ENST00000524487 0.232
gnomAD v2:
11:47463254 C / T
gnomAD v3:
11:47441702 C / T
gnomAD v4:
chr11-47441702-C-T
Joint Max Group AF 0.00219995 (NFE)
Genomes Max Group AF 0.00212326 (NFE)
Exomes Max Group AF 0.0021889 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441702C>T , CM000673.2:g.47441702C>T GRCh38
NC_000011.9:g.47463254C>T , CM000673.1:g.47463254C>T GRCh37
NC_000011.8:g.47419830C>T NCBI36
NG_008312.1:g.12477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.821G>A MANE Select ENSP00000298854.2:p.Ser274Asn
ENST00000298854.6:c.821G>A ENSP00000298854.2:p.Ser274Asn
ENST00000352508.7:c.789+121G>A ENSP00000298853.3:n.789+121G>A
ENST00000524487.5:c.662G>A ENSP00000435551.2:p.Ser221Asn
ENST00000528356.1:n.30G>A
ENST00000529341.1:c.789+121G>A ENSP00000431732.1:n.789+121G>A
NM_005055.4:c.821G>A NP_005046.2:p.Ser274Asn
NM_032645.4:c.789+121G>A NP_116034.2:n.789+121G>A
XM_005253042.2:c.821G>A XP_005253099.1:p.Ser274Asn
XM_005253043.2:c.789+121G>A XP_005253100.1:n.789+121G>A
XM_011520252.1:c.821G>A XP_011518554.1:p.Ser274Asn
XM_011520253.1:c.821G>A XP_011518555.1:p.Ser274Asn
XM_005253042.3:c.821G>A XP_005253099.1:p.Ser274Asn
XM_005253043.3:c.789+121G>A XP_005253100.1:n.789+121G>A
NM_005055.5:c.821G>A MANE Select NP_005046.2:p.Ser274Asn
NM_032645.5:c.789+121G>A NP_116034.2:n.789+121G>A
Search 100 bp 5'
Search 100 bp 3'