Canonical Allele Identifier: CA474217164

Gene: RAPSN

Linked Data

• dbSNP Id: rs1323679695
• gnomAD v2: 11-47459535-G-A
• gnomAD v4: 11-47437984-G-A
• MyVariant Identifiers: chr11:g.47459535G>A (hg19) ; chr11:g.47437984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437984G>A , CM000673.2:g.47437984G>A	GRCh38
NC_000011.9:g.47459535G>A , CM000673.1:g.47459535G>A	GRCh37
NC_000011.8:g.47416111G>A	NCBI36
NG_008312.1:g.16196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1230C>T MANE Select	ENSP00000298854.2:p.Gly410=
ENST00000298854.6:c.1230C>T	ENSP00000298854.2:p.Gly410=
ENST00000352508.7:c.1053C>T	ENSP00000298853.3:p.Gly351=
ENST00000524487.5:c.1071C>T	ENSP00000435551.2:p.Gly357=
ENST00000528356.1:n.185C>T
NM_005055.4:c.1230C>T	NP_005046.2:p.Gly410=
NM_032645.4:c.1053C>T	NP_116034.2:p.Gly351=
XM_005253042.2:c.1176C>T	XP_005253099.1:p.Gly392=
XM_005253043.2:c.1107C>T	XP_005253100.1:p.Gly369=
XM_011520252.1:c.1315C>T	XP_011518554.1:p.Leu439Phe
XM_011520253.1:c.1254C>T	XP_011518555.1:p.Gly418=
XM_005253042.3:c.1176C>T	XP_005253099.1:p.Gly392=
XM_005253043.3:c.1107C>T	XP_005253100.1:p.Gly369=
NM_005055.5:c.1230C>T MANE Select	NP_005046.2:p.Gly410=
NM_032645.5:c.1053C>T	NP_116034.2:p.Gly351=