Canonical Allele Identifier: CA5976809

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 1923708
• ClinVar RCV Id: RCV002634645
• dbSNP Id: rs761705716
• ExAC: 11:47470308 A / G
• gnomAD v2: 11-47470308-A-G
• gnomAD v3: 11-47448756-A-G
• gnomAD v4: 11-47448756-A-G
• MyVariant Identifiers: chr11:g.47470308A>G (hg19) ; chr11:g.47448756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47448756A>G , CM000673.2:g.47448756A>G	GRCh38
NC_000011.9:g.47470308A>G , CM000673.1:g.47470308A>G	GRCh37
NC_000011.8:g.47426884A>G	NCBI36
NG_008312.1:g.5423T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.192+17T>C MANE Select	ENSP00000298854.2:n.192+17T>C
ENST00000298854.6:c.192+17T>C	ENSP00000298854.2:n.192+17T>C
ENST00000352508.7:c.192+17T>C	ENSP00000298853.3:n.192+17T>C
ENST00000524487.5:c.192+17T>C	ENSP00000435551.2:n.192+17T>C
ENST00000529341.1:c.192+17T>C	ENSP00000431732.1:n.192+17T>C
NM_005055.4:c.192+17T>C	NP_005046.2:n.192+17T>C
NM_032645.4:c.192+17T>C	NP_116034.2:n.192+17T>C
XM_005253042.2:c.192+17T>C	XP_005253099.1:n.192+17T>C
XM_005253043.2:c.192+17T>C	XP_005253100.1:n.192+17T>C
XM_011520252.1:c.192+17T>C	XP_011518554.1:n.192+17T>C
XM_011520253.1:c.192+17T>C	XP_011518555.1:n.192+17T>C
XM_005253042.3:c.192+17T>C	XP_005253099.1:n.192+17T>C
XM_005253043.3:c.192+17T>C	XP_005253100.1:n.192+17T>C
NM_005055.5:c.192+17T>C MANE Select	NP_005046.2:n.192+17T>C
NM_032645.5:c.192+17T>C	NP_116034.2:n.192+17T>C