Canonical Allele Identifier: CA5976519

Gene: RAPSN

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438857C>T , CM000673.2:g.47438857C>T	GRCh38
NC_000011.9:g.47460408C>T , CM000673.1:g.47460408C>T	GRCh37
NC_000011.8:g.47416984C>T	NCBI36
NG_008312.1:g.15323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1041G>A MANE Select	ENSP00000298854.2:p.Ala347=
ENST00000298854.6:c.1041G>A	ENSP00000298854.2:p.Ala347=
ENST00000352508.7:c.864G>A	ENSP00000298853.3:p.Ala288=
ENST00000524487.5:c.882G>A	ENSP00000435551.2:p.Ala294=
ENST00000528356.1:n.122-810G>A
ENST00000529341.1:c.864G>A	ENSP00000431732.1:p.Ala288=
NM_005055.4:c.1041G>A	NP_005046.2:p.Ala347=
NM_032645.4:c.864G>A	NP_116034.2:p.Ala288=
XM_005253042.2:c.987G>A	XP_005253099.1:p.Ala329=
XM_005253043.2:c.918G>A	XP_005253100.1:p.Ala306=
XM_011520252.1:c.1126G>A	XP_011518554.1:p.Ala376Thr
XM_011520253.1:c.1065G>A	XP_011518555.1:p.Ala355=
XM_005253042.3:c.987G>A	XP_005253099.1:p.Ala329=
XM_005253043.3:c.918G>A	XP_005253100.1:p.Ala306=
NM_005055.5:c.1041G>A MANE Select	NP_005046.2:p.Ala347=
NM_032645.5:c.864G>A	NP_116034.2:p.Ala288=