Canonical Allele Identifier: CA2739360055

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437926G>C , CM000673.2:g.47437926G>C	GRCh38
NC_000011.9:g.47459477G>C , CM000673.1:g.47459477G>C	GRCh37
NC_000011.8:g.47416053G>C	NCBI36
NG_008312.1:g.16254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*49C>G MANE Select	ENSP00000298854.2:n.*49C>G
ENST00000298854.6:c.*49C>G	ENSP00000298854.2:n.*49C>G
ENST00000352508.7:c.*49C>G	ENSP00000298853.3:n.*49C>G
ENST00000524487.5:c.*49C>G	ENSP00000435551.2:n.*49C>G
ENST00000528356.1:n.243C>G
NM_005055.4:c.*49C>G	NP_005046.2:n.*49C>G
NM_032645.4:c.*49C>G	NP_116034.2:n.*49C>G
XM_005253042.2:c.*49C>G	XP_005253099.1:n.*49C>G
XM_005253043.2:c.*49C>G	XP_005253100.1:n.*49C>G
XM_011520252.1:c.1373C>G	XP_011518554.1:p.Ser458Cys
XM_011520253.1:c.*49C>G	XP_011518555.1:n.*49C>G
XM_005253042.3:c.*49C>G	XP_005253099.1:n.*49C>G
XM_005253043.3:c.*49C>G	XP_005253100.1:n.*49C>G
NM_005055.5:c.*49C>G MANE Select	NP_005046.2:n.*49C>G
NM_032645.5:c.*49C>G	NP_116034.2:n.*49C>G