Canonical Allele Identifier: CA599073596

Gene: RAPSN

Linked Data

• dbSNP Id: rs1317458373
• gnomAD v2: 11-47463049-A-G
• MyVariant Identifiers: chr11:g.47463049A>G (hg19) ; chr11:g.47441497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441497A>G , CM000673.2:g.47441497A>G	GRCh38
NC_000011.9:g.47463049A>G , CM000673.1:g.47463049A>G	GRCh37
NC_000011.8:g.47419625A>G	NCBI36
NG_008312.1:g.12682T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.912+114T>C MANE Select	ENSP00000298854.2:n.912+114T>C
ENST00000298854.6:c.912+114T>C	ENSP00000298854.2:n.912+114T>C
ENST00000352508.7:c.789+326T>C	ENSP00000298853.3:n.789+326T>C
ENST00000524487.5:c.753+114T>C	ENSP00000435551.2:n.753+114T>C
ENST00000528356.1:n.121+114T>C
ENST00000529341.1:c.789+326T>C	ENSP00000431732.1:n.789+326T>C
NM_005055.4:c.912+114T>C	NP_005046.2:n.912+114T>C
NM_032645.4:c.789+326T>C	NP_116034.2:n.789+326T>C
XM_005253042.2:c.912+114T>C	XP_005253099.1:n.912+114T>C
XM_005253043.2:c.790-285T>C	XP_005253100.1:n.790-285T>C
XM_011520252.1:c.912+114T>C	XP_011518554.1:n.912+114T>C
XM_011520253.1:c.912+114T>C	XP_011518555.1:n.912+114T>C
XM_005253042.3:c.912+114T>C	XP_005253099.1:n.912+114T>C
XM_005253043.3:c.790-285T>C	XP_005253100.1:n.790-285T>C
NM_005055.5:c.912+114T>C MANE Select	NP_005046.2:n.912+114T>C
NM_032645.5:c.789+326T>C	NP_116034.2:n.789+326T>C