Canonical Allele Identifier: CA5976611

Gene: RAPSN

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441702C>T , CM000673.2:g.47441702C>T	GRCh38
NC_000011.9:g.47463254C>T , CM000673.1:g.47463254C>T	GRCh37
NC_000011.8:g.47419830C>T	NCBI36
NG_008312.1:g.12477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.821G>A MANE Select	ENSP00000298854.2:p.Ser274Asn
ENST00000298854.6:c.821G>A	ENSP00000298854.2:p.Ser274Asn
ENST00000352508.7:c.789+121G>A	ENSP00000298853.3:n.789+121G>A
ENST00000524487.5:c.662G>A	ENSP00000435551.2:p.Ser221Asn
ENST00000528356.1:n.30G>A
ENST00000529341.1:c.789+121G>A	ENSP00000431732.1:n.789+121G>A
NM_005055.4:c.821G>A	NP_005046.2:p.Ser274Asn
NM_032645.4:c.789+121G>A	NP_116034.2:n.789+121G>A
XM_005253042.2:c.821G>A	XP_005253099.1:p.Ser274Asn
XM_005253043.2:c.789+121G>A	XP_005253100.1:n.789+121G>A
XM_011520252.1:c.821G>A	XP_011518554.1:p.Ser274Asn
XM_011520253.1:c.821G>A	XP_011518555.1:p.Ser274Asn
XM_005253042.3:c.821G>A	XP_005253099.1:p.Ser274Asn
XM_005253043.3:c.789+121G>A	XP_005253100.1:n.789+121G>A
NM_005055.5:c.821G>A MANE Select	NP_005046.2:p.Ser274Asn
NM_032645.5:c.789+121G>A	NP_116034.2:n.789+121G>A