Canonical Allele Identifier: CA119252
Gene: RAPSN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8047
ClinVar RCV Id: RCV000008513
dbSNP Id: rs104894300

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47448924A>G , CM000673.2:g.47448924A>G GRCh38
NC_000011.9:g.47470476A>G , CM000673.1:g.47470476A>G GRCh37
NC_000011.8:g.47427052A>G NCBI36
NG_008312.1:g.5255T>C

Transcript Alleles

HGVS Amino-acid change
NM_005055.4:c.41T>C VV NP_005046.2:p.Leu14Pro
NM_032645.4:c.41T>C VV NP_116034.2:p.Leu14Pro
XM_005253042.2:c.41T>C XP_005253099.1:p.Leu14Pro
XM_005253043.2:c.41T>C XP_005253100.1:p.Leu14Pro
XM_011520252.1:c.41T>C XP_011518554.1:p.Leu14Pro
XM_011520253.1:c.41T>C XP_011518555.1:p.Leu14Pro
XM_005253042.3:c.41T>C
XM_005253043.3:c.41T>C
ENST00000298854.6:c.41T>C ENSP00000298854.2:p.Leu14Pro
ENST00000352508.7:c.41T>C ENSP00000298853.3:p.Leu14Pro
ENST00000524487.5:c.41T>C ENSP00000435551.2:p.Leu14Pro
ENST00000529341.1:c.41T>C ENSP00000431732.1:p.Leu14Pro