Canonical Allele Identifier: CA937670388

Gene: RAPSN

Linked Data

• dbSNP Id: rs2076435390
• gnomAD v3: 11-47449086-G-A
• gnomAD v4: 11-47449086-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47449086G>A , CM000673.2:g.47449086G>A	GRCh38
NC_000011.9:g.47470638G>A , CM000673.1:g.47470638G>A	GRCh37
NC_000011.8:g.47427214G>A	NCBI36
NG_008312.1:g.5093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.-122C>T MANE Select	ENSP00000298854.2:n.-122C>T
ENST00000298854.6:c.-122C>T	ENSP00000298854.2:n.-122C>T
ENST00000352508.7:c.-122C>T	ENSP00000298853.3:n.-122C>T
ENST00000524487.5:c.-122C>T	ENSP00000435551.2:n.-122C>T
ENST00000529341.1:c.-122C>T	ENSP00000431732.1:n.-122C>T
NM_005055.4:c.-122C>T	NP_005046.2:n.-122C>T
NM_032645.4:c.-122C>T	NP_116034.2:n.-122C>T
XM_005253042.2:c.-122C>T	XP_005253099.1:n.-122C>T
XM_005253043.2:c.-122C>T	XP_005253100.1:n.-122C>T
XM_011520252.1:c.-122C>T	XP_011518554.1:n.-122C>T
XM_011520253.1:c.-122C>T	XP_011518555.1:n.-122C>T
XM_005253042.3:c.-122C>T	XP_005253099.1:n.-122C>T
XM_005253043.3:c.-122C>T	XP_005253100.1:n.-122C>T
NM_005055.5:c.-122C>T MANE Select	NP_005046.2:n.-122C>T
NM_032645.5:c.-122C>T	NP_116034.2:n.-122C>T