Canonical Allele Identifier: CA2613404575

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47437928-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437928G>A , CM000673.2:g.47437928G>A	GRCh38
NC_000011.9:g.47459479G>A , CM000673.1:g.47459479G>A	GRCh37
NC_000011.8:g.47416055G>A	NCBI36
NG_008312.1:g.16252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*47C>T MANE Select	ENSP00000298854.2:n.*47C>T
ENST00000298854.6:c.*47C>T	ENSP00000298854.2:n.*47C>T
ENST00000352508.7:c.*47C>T	ENSP00000298853.3:n.*47C>T
ENST00000524487.5:c.*47C>T	ENSP00000435551.2:n.*47C>T
ENST00000528356.1:n.241C>T
NM_005055.4:c.*47C>T	NP_005046.2:n.*47C>T
NM_032645.4:c.*47C>T	NP_116034.2:n.*47C>T
XM_005253042.2:c.*47C>T	XP_005253099.1:n.*47C>T
XM_005253043.2:c.*47C>T	XP_005253100.1:n.*47C>T
XM_011520252.1:c.1371C>T	XP_011518554.1:p.Phe457=
XM_011520253.1:c.*47C>T	XP_011518555.1:n.*47C>T
XM_005253042.3:c.*47C>T	XP_005253099.1:n.*47C>T
XM_005253043.3:c.*47C>T	XP_005253100.1:n.*47C>T
NM_005055.5:c.*47C>T MANE Select	NP_005046.2:n.*47C>T
NM_032645.5:c.*47C>T	NP_116034.2:n.*47C>T