Canonical Allele Identifier: CA2613411002

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441594-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441594G>A , CM000673.2:g.47441594G>A	GRCh38
NC_000011.9:g.47463146G>A , CM000673.1:g.47463146G>A	GRCh37
NC_000011.8:g.47419722G>A	NCBI36
NG_008312.1:g.12585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.912+17C>T MANE Select	ENSP00000298854.2:n.912+17C>T
ENST00000298854.6:c.912+17C>T	ENSP00000298854.2:n.912+17C>T
ENST00000352508.7:c.789+229C>T	ENSP00000298853.3:n.789+229C>T
ENST00000524487.5:c.753+17C>T	ENSP00000435551.2:n.753+17C>T
ENST00000528356.1:n.121+17C>T
ENST00000529341.1:c.789+229C>T	ENSP00000431732.1:n.789+229C>T
NM_005055.4:c.912+17C>T	NP_005046.2:n.912+17C>T
NM_032645.4:c.789+229C>T	NP_116034.2:n.789+229C>T
XM_005253042.2:c.912+17C>T	XP_005253099.1:n.912+17C>T
XM_005253043.2:c.789+229C>T	XP_005253100.1:n.789+229C>T
XM_011520252.1:c.912+17C>T	XP_011518554.1:n.912+17C>T
XM_011520253.1:c.912+17C>T	XP_011518555.1:n.912+17C>T
XM_005253042.3:c.912+17C>T	XP_005253099.1:n.912+17C>T
XM_005253043.3:c.789+229C>T	XP_005253100.1:n.789+229C>T
NM_005055.5:c.912+17C>T MANE Select	NP_005046.2:n.912+17C>T
NM_032645.5:c.789+229C>T	NP_116034.2:n.789+229C>T