Canonical Allele Identifier: CA2613410238

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47449079-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47449079A>G , CM000673.2:g.47449079A>G	GRCh38
NC_000011.9:g.47470631A>G , CM000673.1:g.47470631A>G	GRCh37
NC_000011.8:g.47427207A>G	NCBI36
NG_008312.1:g.5100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.-115T>C MANE Select	ENSP00000298854.2:n.-115T>C
ENST00000298854.6:c.-115T>C	ENSP00000298854.2:n.-115T>C
ENST00000352508.7:c.-115T>C	ENSP00000298853.3:n.-115T>C
ENST00000524487.5:c.-115T>C	ENSP00000435551.2:n.-115T>C
ENST00000529341.1:c.-115T>C	ENSP00000431732.1:n.-115T>C
NM_005055.4:c.-115T>C	NP_005046.2:n.-115T>C
NM_032645.4:c.-115T>C	NP_116034.2:n.-115T>C
XM_005253042.2:c.-115T>C	XP_005253099.1:n.-115T>C
XM_005253043.2:c.-115T>C	XP_005253100.1:n.-115T>C
XM_011520252.1:c.-115T>C	XP_011518554.1:n.-115T>C
XM_011520253.1:c.-115T>C	XP_011518555.1:n.-115T>C
XM_005253042.3:c.-115T>C	XP_005253099.1:n.-115T>C
XM_005253043.3:c.-115T>C	XP_005253100.1:n.-115T>C
NM_005055.5:c.-115T>C MANE Select	NP_005046.2:n.-115T>C
NM_032645.5:c.-115T>C	NP_116034.2:n.-115T>C