Canonical Allele Identifier: CA10605108

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438011G>A , CM000673.2:g.47438011G>A	GRCh38
NC_000011.9:g.47459562G>A , CM000673.1:g.47459562G>A	GRCh37
NC_000011.8:g.47416138G>A	NCBI36
NG_008312.1:g.16169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1203C>T MANE Select	ENSP00000298854.2:p.Asn401=
ENST00000298854.6:c.1203C>T	ENSP00000298854.2:p.Asn401=
ENST00000352508.7:c.1026C>T	ENSP00000298853.3:p.Asn342=
ENST00000524487.5:c.1044C>T	ENSP00000435551.2:p.Asn348=
ENST00000528356.1:n.158C>T
NM_005055.4:c.1203C>T	NP_005046.2:p.Asn401=
NM_032645.4:c.1026C>T	NP_116034.2:p.Asn342=
XM_005253042.2:c.1149C>T	XP_005253099.1:p.Asn383=
XM_005253043.2:c.1080C>T	XP_005253100.1:p.Asn360=
XM_011520252.1:c.1288C>T	XP_011518554.1:p.Leu430=
XM_011520253.1:c.1227C>T	XP_011518555.1:p.Asn409=
XM_005253042.3:c.1149C>T	XP_005253099.1:p.Asn383=
XM_005253043.3:c.1080C>T	XP_005253100.1:p.Asn360=
NM_005055.5:c.1203C>T MANE Select	NP_005046.2:p.Asn401=
NM_032645.5:c.1026C>T	NP_116034.2:p.Asn342=