Canonical Allele Identifier: CA1969387591
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441686G= , CM000673.2:g.47441686G= GRCh38
NC_000011.9:g.47463238G= , CM000673.1:g.47463238G= GRCh37
NC_000011.8:g.47419814G= NCBI36
NG_008312.1:g.12493C=

Transcript Alleles

HGVS Amino-acid change
ENST00000298854.7:c.837C= MANE Select ENSP00000298854.2:p.Ile279=
ENST00000298854.6:c.837C= ENSP00000298854.2:p.Ile279=
ENST00000352508.7:c.789+137C= ENSP00000298853.3:n.789+137C=
ENST00000524487.5:c.678C= ENSP00000435551.2:p.Ile226=
ENST00000528356.1:n.46C=
ENST00000529341.1:c.789+137C= ENSP00000431732.1:n.789+137C=
NM_005055.4:c.837C= NP_005046.2:p.Ile279=
NM_032645.4:c.789+137C= NP_116034.2:n.789+137C=
XM_005253042.2:c.837C= XP_005253099.1:p.Ile279=
XM_005253043.2:c.789+137C= XP_005253100.1:n.789+137C=
XM_011520252.1:c.837C= XP_011518554.1:p.Ile279=
XM_011520253.1:c.837C= XP_011518555.1:p.Ile279=
XM_005253042.3:c.837C= XP_005253099.1:p.Ile279=
XM_005253043.3:c.789+137C= XP_005253100.1:n.789+137C=
NM_005055.5:c.837C= MANE Select NP_005046.2:p.Ile279=
NM_032645.5:c.789+137C= NP_116034.2:n.789+137C=