Canonical Allele Identifier: CA5976558

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441197C>T , CM000673.2:g.47441197C>T	GRCh38
NC_000011.9:g.47462748C>T , CM000673.1:g.47462748C>T	GRCh37
NC_000011.8:g.47419324C>T	NCBI36
NG_008312.1:g.12983G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.928G>A MANE Select	NP_005046.2:p.Glu310Lys
ENST00000298854.7:c.928G>A MANE Select	ENSP00000298854.2:p.Glu310Lys
NM_005055.4:c.928G>A	NP_005046.2:p.Glu310Lys
NM_032645.4:c.789+626G>A	NP_116034.2:n.789+626G>A
NM_032645.5:c.789+626G>A	NP_116034.2:n.789+626G>A
ENST00000298854.6:c.928G>A	ENSP00000298854.2:p.Glu310Lys
ENST00000352508.7:c.789+626G>A	ENSP00000298853.3:n.789+626G>A
ENST00000524487.5:c.769G>A	ENSP00000435551.2:p.Glu257Lys
ENST00000528356.1:n.121+414G>A
ENST00000529341.1:c.789+626G>A	ENSP00000431732.1:n.789+626G>A
XM_005253042.2:c.912+414G>A	XP_005253099.1:n.912+414G>A
XM_005253042.3:c.912+414G>A	XP_005253099.1:n.912+414G>A
XM_005253043.2:c.805G>A	XP_005253100.1:p.Glu269Lys
XM_005253043.3:c.805G>A	XP_005253100.1:p.Glu269Lys
XM_011520252.1:c.1013G>A	XP_011518554.1:p.Arg338Gln
XM_011520253.1:c.952G>A	XP_011518555.1:p.Glu318Lys