Canonical Allele Identifier: CA2739359966

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437863T>G , CM000673.2:g.47437863T>G	GRCh38
NC_000011.9:g.47459414T>G , CM000673.1:g.47459414T>G	GRCh37
NC_000011.8:g.47415990T>G	NCBI36
NG_008312.1:g.16317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*112A>C MANE Select	ENSP00000298854.2:n.*112A>C
ENST00000298854.6:c.*112A>C	ENSP00000298854.2:n.*112A>C
ENST00000352508.7:c.*112A>C	ENSP00000298853.3:n.*112A>C
ENST00000524487.5:c.*112A>C	ENSP00000435551.2:n.*112A>C
ENST00000528356.1:n.306A>C
NM_005055.4:c.*112A>C	NP_005046.2:n.*112A>C
NM_032645.4:c.*112A>C	NP_116034.2:n.*112A>C
XM_011520252.1:c.1436A>C	XP_011518554.1:p.Lys479Thr
NM_005055.5:c.*112A>C MANE Select	NP_005046.2:n.*112A>C
NM_032645.5:c.*112A>C	NP_116034.2:n.*112A>C