Canonical Allele Identifier: CA5976676
Gene: RAPSN HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47442646G>A , CM000673.2:g.47442646G>A GRCh38
NC_000011.9:g.47464198G>A , CM000673.1:g.47464198G>A GRCh37
NC_000011.8:g.47420774G>A NCBI36
NG_008312.1:g.11533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.690+10C>T MANE Select ENSP00000298854.2:n.690+10C>T
ENST00000298854.6:c.690+10C>T ENSP00000298854.2:n.690+10C>T
ENST00000352508.7:c.690+10C>T ENSP00000298853.3:n.690+10C>T
ENST00000524487.5:c.532-725C>T ENSP00000435551.2:n.532-725C>T
ENST00000529341.1:c.690+10C>T ENSP00000431732.1:n.690+10C>T
NM_005055.4:c.690+10C>T NP_005046.2:n.690+10C>T
NM_032645.4:c.690+10C>T NP_116034.2:n.690+10C>T
XM_005253042.2:c.690+10C>T XP_005253099.1:n.690+10C>T
XM_005253043.2:c.690+10C>T XP_005253100.1:n.690+10C>T
XM_011520252.1:c.690+10C>T XP_011518554.1:n.690+10C>T
XM_011520253.1:c.690+10C>T XP_011518555.1:n.690+10C>T
XM_005253042.3:c.690+10C>T XP_005253099.1:n.690+10C>T
XM_005253043.3:c.690+10C>T XP_005253100.1:n.690+10C>T
NM_005055.5:c.690+10C>T MANE Select NP_005046.2:n.690+10C>T
NM_032645.5:c.690+10C>T NP_116034.2:n.690+10C>T