Canonical Allele Identifier: CA677007026

Gene: RAPSN

Linked Data

• dbSNP Id: rs1342016885
• gnomAD v3: 11-47437828-G-A
• gnomAD v4: 11-47437828-G-A
• MyVariant Identifiers: chr11:g.47459379G>A (hg19) ; chr11:g.47437828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437828G>A , CM000673.2:g.47437828G>A	GRCh38
NC_000011.9:g.47459379G>A , CM000673.1:g.47459379G>A	GRCh37
NC_000011.8:g.47415955G>A	NCBI36
NG_008312.1:g.16352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*147C>T MANE Select	ENSP00000298854.2:n.*147C>T
ENST00000298854.6:c.*147C>T	ENSP00000298854.2:n.*147C>T
ENST00000352508.7:c.*147C>T	ENSP00000298853.3:n.*147C>T
ENST00000524487.5:c.*147C>T	ENSP00000435551.2:n.*147C>T
ENST00000528356.1:n.341C>T
NM_005055.4:c.*147C>T	NP_005046.2:n.*147C>T
NM_032645.4:c.*147C>T	NP_116034.2:n.*147C>T
XM_011520252.1:c.1471C>T	XP_011518554.1:p.Pro491Ser
NM_005055.5:c.*147C>T MANE Select	NP_005046.2:n.*147C>T
NM_032645.5:c.*147C>T	NP_116034.2:n.*147C>T