Canonical Allele Identifier: CA380326993

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438731C>G , CM000673.2:g.47438731C>G	GRCh38
NC_000011.9:g.47460282C>G , CM000673.1:g.47460282C>G	GRCh37
NC_000011.8:g.47416858C>G	NCBI36
NG_008312.1:g.15449G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.1166+1G>C MANE Select	NP_005046.2:n.1166+1G>C
ENST00000298854.7:c.1166+1G>C MANE Select	ENSP00000298854.2:n.1166+1G>C
NM_005055.4:c.1166+1G>C	NP_005046.2:n.1166+1G>C
NM_032645.4:c.989+1G>C	NP_116034.2:n.989+1G>C
NM_032645.5:c.989+1G>C	NP_116034.2:n.989+1G>C
ENST00000298854.6:c.1166+1G>C	ENSP00000298854.2:n.1166+1G>C
ENST00000352508.7:c.989+1G>C	ENSP00000298853.3:n.989+1G>C
ENST00000524487.5:c.1007+1G>C	ENSP00000435551.2:n.1007+1G>C
ENST00000528356.1:n.122-684G>C
ENST00000529341.1:c.990G>C	ENSP00000431732.1:p.Arg330Ser
XM_005253042.2:c.1112+1G>C	XP_005253099.1:n.1112+1G>C
XM_005253042.3:c.1112+1G>C	XP_005253099.1:n.1112+1G>C
XM_005253043.2:c.1043+1G>C	XP_005253100.1:n.1043+1G>C
XM_005253043.3:c.1043+1G>C	XP_005253100.1:n.1043+1G>C
XM_011520252.1:c.1251+1G>C	XP_011518554.1:n.1251+1G>C
XM_011520253.1:c.1190+1G>C	XP_011518555.1:n.1190+1G>C