Canonical Allele Identifier: CA1969379461
Community Standard Title: NM_005055.5(RAPSN):c.133G= (p.Val45=)
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47448832C= , CM000673.2:g.47448832C= GRCh38
NC_000011.9:g.47470384C= , CM000673.1:g.47470384C= GRCh37
NC_000011.8:g.47426960C= NCBI36
NG_008312.1:g.5347G=

Transcript Alleles

HGVS Amino-acid Change
NM_005055.5:c.133G= MANE Select NP_005046.2:p.Val45=
ENST00000298854.7:c.133G= MANE Select ENSP00000298854.2:p.Val45=
NM_005055.4:c.133G= NP_005046.2:p.Val45=
NM_032645.4:c.133G= NP_116034.2:p.Val45=
NM_032645.5:c.133G= NP_116034.2:p.Val45=
ENST00000298854.6:c.133G= ENSP00000298854.2:p.Val45=
ENST00000352508.7:c.133G= ENSP00000298853.3:p.Val45=
ENST00000524487.5:c.133G= ENSP00000435551.2:p.Val45=
ENST00000529341.1:c.133G= ENSP00000431732.1:p.Val45=
XM_005253042.2:c.133G= XP_005253099.1:p.Val45=
XM_005253042.3:c.133G= XP_005253099.1:p.Val45=
XM_005253043.2:c.133G= XP_005253100.1:p.Val45=
XM_005253043.3:c.133G= XP_005253100.1:p.Val45=
XM_011520252.1:c.133G= XP_011518554.1:p.Val45=
XM_011520253.1:c.133G= XP_011518555.1:p.Val45=