Canonical Allele Identifier: CA5976833

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 991113
• ClinVar RCV Id: RCV001279264
• dbSNP Id: rs772236739
• ExAC: 11:47470387 G / A
• gnomAD v2: 11-47470387-G-A
• gnomAD v3: 11-47448835-G-A
• gnomAD v4: 11-47448835-G-A
• MyVariant Identifiers: chr11:g.47470387G>A (hg19) ; chr11:g.47448835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47448835G>A , CM000673.2:g.47448835G>A	GRCh38
NC_000011.9:g.47470387G>A , CM000673.1:g.47470387G>A	GRCh37
NC_000011.8:g.47426963G>A	NCBI36
NG_008312.1:g.5344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.130C>T MANE Select	ENSP00000298854.2:p.Arg44Cys
ENST00000298854.6:c.130C>T	ENSP00000298854.2:p.Arg44Cys
ENST00000352508.7:c.130C>T	ENSP00000298853.3:p.Arg44Cys
ENST00000524487.5:c.130C>T	ENSP00000435551.2:p.Arg44Cys
ENST00000529341.1:c.130C>T	ENSP00000431732.1:p.Arg44Cys
NM_005055.4:c.130C>T	NP_005046.2:p.Arg44Cys
NM_032645.4:c.130C>T	NP_116034.2:p.Arg44Cys
XM_005253042.2:c.130C>T	XP_005253099.1:p.Arg44Cys
XM_005253043.2:c.130C>T	XP_005253100.1:p.Arg44Cys
XM_011520252.1:c.130C>T	XP_011518554.1:p.Arg44Cys
XM_011520253.1:c.130C>T	XP_011518555.1:p.Arg44Cys
XM_005253042.3:c.130C>T	XP_005253099.1:p.Arg44Cys
XM_005253043.3:c.130C>T	XP_005253100.1:p.Arg44Cys
NM_005055.5:c.130C>T MANE Select	NP_005046.2:p.Arg44Cys
NM_032645.5:c.130C>T	NP_116034.2:p.Arg44Cys