Canonical Allele Identifier: CA351331
Gene: RAPSN HGNC NCBI

Linked Data

ClinVar Variation Id: 242501
ClinVar RCV Id: RCV000200529
dbSNP Id: rs863224911
MyVariant Identifiers: chr11:g.47463246T>C (hg19) chr11:g.47441694T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441694T>C , CM000673.2:g.47441694T>C GRCh38
NC_000011.9:g.47463246T>C , CM000673.1:g.47463246T>C GRCh37
NC_000011.8:g.47419822T>C NCBI36
NG_008312.1:g.12485A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298854.7:c.829A>G MANE Select ENSP00000298854.2:p.Thr277Ala
ENST00000298854.6:c.829A>G ENSP00000298854.2:p.Thr277Ala
ENST00000352508.7:c.789+129A>G ENSP00000298853.3:n.789+129A>G
ENST00000524487.5:c.670A>G ENSP00000435551.2:p.Thr224Ala
ENST00000528356.1:n.38A>G
ENST00000529341.1:c.789+129A>G ENSP00000431732.1:n.789+129A>G
NM_005055.4:c.829A>G NP_005046.2:p.Thr277Ala
NM_032645.4:c.789+129A>G NP_116034.2:n.789+129A>G
XM_005253042.2:c.829A>G XP_005253099.1:p.Thr277Ala
XM_005253043.2:c.789+129A>G XP_005253100.1:n.789+129A>G
XM_011520252.1:c.829A>G XP_011518554.1:p.Thr277Ala
XM_011520253.1:c.829A>G XP_011518555.1:p.Thr277Ala
XM_005253042.3:c.829A>G XP_005253099.1:p.Thr277Ala
XM_005253043.3:c.789+129A>G XP_005253100.1:n.789+129A>G
NM_005055.5:c.829A>G MANE Select NP_005046.2:p.Thr277Ala
NM_032645.5:c.789+129A>G NP_116034.2:n.789+129A>G
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