Canonical Allele Identifier: CA2739359951

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437852G>C , CM000673.2:g.47437852G>C	GRCh38
NC_000011.9:g.47459403G>C , CM000673.1:g.47459403G>C	GRCh37
NC_000011.8:g.47415979G>C	NCBI36
NG_008312.1:g.16328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*123C>G MANE Select	ENSP00000298854.2:n.*123C>G
ENST00000298854.6:c.*123C>G	ENSP00000298854.2:n.*123C>G
ENST00000352508.7:c.*123C>G	ENSP00000298853.3:n.*123C>G
ENST00000524487.5:c.*123C>G	ENSP00000435551.2:n.*123C>G
ENST00000528356.1:n.317C>G
NM_005055.4:c.*123C>G	NP_005046.2:n.*123C>G
NM_032645.4:c.*123C>G	NP_116034.2:n.*123C>G
XM_011520252.1:c.1447C>G	XP_011518554.1:p.Pro483Ala
NM_005055.5:c.*123C>G MANE Select	NP_005046.2:n.*123C>G
NM_032645.5:c.*123C>G	NP_116034.2:n.*123C>G