Canonical Allele Identifier: CA2739360097

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437956C>G , CM000673.2:g.47437956C>G	GRCh38
NC_000011.9:g.47459507C>G , CM000673.1:g.47459507C>G	GRCh37
NC_000011.8:g.47416083C>G	NCBI36
NG_008312.1:g.16224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*19G>C MANE Select	ENSP00000298854.2:n.*19G>C
ENST00000298854.6:c.*19G>C	ENSP00000298854.2:n.*19G>C
ENST00000352508.7:c.*19G>C	ENSP00000298853.3:n.*19G>C
ENST00000524487.5:c.*19G>C	ENSP00000435551.2:n.*19G>C
ENST00000528356.1:n.213G>C
NM_005055.4:c.*19G>C	NP_005046.2:n.*19G>C
NM_032645.4:c.*19G>C	NP_116034.2:n.*19G>C
XM_005253042.2:c.*19G>C	XP_005253099.1:n.*19G>C
XM_005253043.2:c.*19G>C	XP_005253100.1:n.*19G>C
XM_011520252.1:c.1343G>C	XP_011518554.1:p.Gly448Ala
XM_011520253.1:c.*19G>C	XP_011518555.1:n.*19G>C
XM_005253042.3:c.*19G>C	XP_005253099.1:n.*19G>C
XM_005253043.3:c.*19G>C	XP_005253100.1:n.*19G>C
NM_005055.5:c.*19G>C MANE Select	NP_005046.2:n.*19G>C
NM_032645.5:c.*19G>C	NP_116034.2:n.*19G>C