Canonical Allele Identifier: CA2739360066

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437932G>T , CM000673.2:g.47437932G>T	GRCh38
NC_000011.9:g.47459483G>T , CM000673.1:g.47459483G>T	GRCh37
NC_000011.8:g.47416059G>T	NCBI36
NG_008312.1:g.16248C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*43C>A MANE Select	ENSP00000298854.2:n.*43C>A
ENST00000298854.6:c.*43C>A	ENSP00000298854.2:n.*43C>A
ENST00000352508.7:c.*43C>A	ENSP00000298853.3:n.*43C>A
ENST00000524487.5:c.*43C>A	ENSP00000435551.2:n.*43C>A
ENST00000528356.1:n.237C>A
NM_005055.4:c.*43C>A	NP_005046.2:n.*43C>A
NM_032645.4:c.*43C>A	NP_116034.2:n.*43C>A
XM_005253042.2:c.*43C>A	XP_005253099.1:n.*43C>A
XM_005253043.2:c.*43C>A	XP_005253100.1:n.*43C>A
XM_011520252.1:c.1367C>A	XP_011518554.1:p.Ser456Tyr
XM_011520253.1:c.*43C>A	XP_011518555.1:n.*43C>A
XM_005253042.3:c.*43C>A	XP_005253099.1:n.*43C>A
XM_005253043.3:c.*43C>A	XP_005253100.1:n.*43C>A
NM_005055.5:c.*43C>A MANE Select	NP_005046.2:n.*43C>A
NM_032645.5:c.*43C>A	NP_116034.2:n.*43C>A