Canonical Allele Identifier: CA5976585

Gene: RAPSN

Linked Data

• dbSNP Id: rs756130406
• ExAC: 11:47463137 A / T
• gnomAD v2: 11-47463137-A-T
• gnomAD v4: 11-47441585-A-T
• MyVariant Identifiers: chr11:g.47463137A>T (hg19) ; chr11:g.47441585A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441585A>T , CM000673.2:g.47441585A>T	GRCh38
NC_000011.9:g.47463137A>T , CM000673.1:g.47463137A>T	GRCh37
NC_000011.8:g.47419713A>T	NCBI36
NG_008312.1:g.12594T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.912+26T>A MANE Select	ENSP00000298854.2:n.912+26T>A
ENST00000298854.6:c.912+26T>A	ENSP00000298854.2:n.912+26T>A
ENST00000352508.7:c.789+238T>A	ENSP00000298853.3:n.789+238T>A
ENST00000524487.5:c.753+26T>A	ENSP00000435551.2:n.753+26T>A
ENST00000528356.1:n.121+26T>A
ENST00000529341.1:c.789+238T>A	ENSP00000431732.1:n.789+238T>A
NM_005055.4:c.912+26T>A	NP_005046.2:n.912+26T>A
NM_032645.4:c.789+238T>A	NP_116034.2:n.789+238T>A
XM_005253042.2:c.912+26T>A	XP_005253099.1:n.912+26T>A
XM_005253043.2:c.789+238T>A	XP_005253100.1:n.789+238T>A
XM_011520252.1:c.912+26T>A	XP_011518554.1:n.912+26T>A
XM_011520253.1:c.912+26T>A	XP_011518555.1:n.912+26T>A
XM_005253042.3:c.912+26T>A	XP_005253099.1:n.912+26T>A
XM_005253043.3:c.789+238T>A	XP_005253100.1:n.789+238T>A
NM_005055.5:c.912+26T>A MANE Select	NP_005046.2:n.912+26T>A
NM_032645.5:c.789+238T>A	NP_116034.2:n.789+238T>A