Canonical Allele Identifier: CA380330118
Gene: RAPSN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441858A>C , CM000673.2:g.47441858A>C GRCh38
NC_000011.9:g.47463410A>C , CM000673.1:g.47463410A>C GRCh37
NC_000011.8:g.47419986A>C NCBI36
NG_008312.1:g.12321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.754T>G MANE Select ENSP00000298854.2:p.Phe252Val
ENST00000298854.6:c.754T>G ENSP00000298854.2:p.Phe252Val
ENST00000352508.7:c.754T>G ENSP00000298853.3:p.Phe252Val
ENST00000524487.5:c.595T>G ENSP00000435551.2:p.Phe199Val
ENST00000529341.1:c.754T>G ENSP00000431732.1:p.Phe252Val
NM_005055.4:c.754T>G NP_005046.2:p.Phe252Val
NM_032645.4:c.754T>G NP_116034.2:p.Phe252Val
XM_005253042.2:c.754T>G XP_005253099.1:p.Phe252Val
XM_005253043.2:c.754T>G XP_005253100.1:p.Phe252Val
XM_011520252.1:c.754T>G XP_011518554.1:p.Phe252Val
XM_011520253.1:c.754T>G XP_011518555.1:p.Phe252Val
XM_005253042.3:c.754T>G XP_005253099.1:p.Phe252Val
XM_005253043.3:c.754T>G XP_005253100.1:p.Phe252Val
NM_005055.5:c.754T>G MANE Select NP_005046.2:p.Phe252Val
NM_032645.5:c.754T>G NP_116034.2:p.Phe252Val