Canonical Allele Identifier: CA380325441
Gene: RAPSN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437997G>C , CM000673.2:g.47437997G>C GRCh38
NC_000011.9:g.47459548G>C , CM000673.1:g.47459548G>C GRCh37
NC_000011.8:g.47416124G>C NCBI36
NG_008312.1:g.16183C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.1217C>G MANE Select ENSP00000298854.2:p.Ser406Cys
ENST00000298854.6:c.1217C>G ENSP00000298854.2:p.Ser406Cys
ENST00000352508.7:c.1040C>G ENSP00000298853.3:p.Ser347Cys
ENST00000524487.5:c.1058C>G ENSP00000435551.2:p.Ser353Cys
ENST00000528356.1:n.172C>G
NM_005055.4:c.1217C>G NP_005046.2:p.Ser406Cys
NM_032645.4:c.1040C>G NP_116034.2:p.Ser347Cys
XM_005253042.2:c.1163C>G XP_005253099.1:p.Ser388Cys
XM_005253043.2:c.1094C>G XP_005253100.1:p.Ser365Cys
XM_011520252.1:c.1302C>G XP_011518554.1:p.Ile434Met
XM_011520253.1:c.1241C>G XP_011518555.1:p.Ser414Cys
XM_005253042.3:c.1163C>G XP_005253099.1:p.Ser388Cys
XM_005253043.3:c.1094C>G XP_005253100.1:p.Ser365Cys
NM_005055.5:c.1217C>G MANE Select NP_005046.2:p.Ser406Cys
NM_032645.5:c.1040C>G NP_116034.2:p.Ser347Cys