Canonical Allele Identifier: CA5976604

Gene: RAPSN

Linked Data

• dbSNP Id: rs143668632
• ExAC: 11:47463230 C / T
• gnomAD v2: 11-47463230-C-T
• gnomAD v3: 11-47441678-C-T
• gnomAD v4: 11-47441678-C-T
• MyVariant Identifiers: chr11:g.47463230C>T (hg19) ; chr11:g.47441678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441678C>T , CM000673.2:g.47441678C>T	GRCh38
NC_000011.9:g.47463230C>T , CM000673.1:g.47463230C>T	GRCh37
NC_000011.8:g.47419806C>T	NCBI36
NG_008312.1:g.12501G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.845G>A MANE Select	ENSP00000298854.2:p.Arg282His
ENST00000298854.6:c.845G>A	ENSP00000298854.2:p.Arg282His
ENST00000352508.7:c.789+145G>A	ENSP00000298853.3:n.789+145G>A
ENST00000524487.5:c.686G>A	ENSP00000435551.2:p.Arg229His
ENST00000528356.1:n.54G>A
ENST00000529341.1:c.789+145G>A	ENSP00000431732.1:n.789+145G>A
NM_005055.4:c.845G>A	NP_005046.2:p.Arg282His
NM_032645.4:c.789+145G>A	NP_116034.2:n.789+145G>A
XM_005253042.2:c.845G>A	XP_005253099.1:p.Arg282His
XM_005253043.2:c.789+145G>A	XP_005253100.1:n.789+145G>A
XM_011520252.1:c.845G>A	XP_011518554.1:p.Arg282His
XM_011520253.1:c.845G>A	XP_011518555.1:p.Arg282His
XM_005253042.3:c.845G>A	XP_005253099.1:p.Arg282His
XM_005253043.3:c.789+145G>A	XP_005253100.1:n.789+145G>A
NM_005055.5:c.845G>A MANE Select	NP_005046.2:p.Arg282His
NM_032645.5:c.789+145G>A	NP_116034.2:n.789+145G>A