Canonical Allele Identifier: CA5976688
Gene: RAPSN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47442706C>T , CM000673.2:g.47442706C>T GRCh38
NC_000011.9:g.47464258C>T , CM000673.1:g.47464258C>T GRCh37
NC_000011.8:g.47420834C>T NCBI36
NG_008312.1:g.11473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.640G>A MANE Select ENSP00000298854.2:p.Val214Met
ENST00000298854.6:c.640G>A ENSP00000298854.2:p.Val214Met
ENST00000352508.7:c.640G>A ENSP00000298853.3:p.Val214Met
ENST00000524487.5:c.532-785G>A ENSP00000435551.2:n.532-785G>A
ENST00000529341.1:c.640G>A ENSP00000431732.1:p.Val214Met
NM_005055.4:c.640G>A NP_005046.2:p.Val214Met
NM_032645.4:c.640G>A NP_116034.2:p.Val214Met
XM_005253042.2:c.640G>A XP_005253099.1:p.Val214Met
XM_005253043.2:c.640G>A XP_005253100.1:p.Val214Met
XM_011520252.1:c.640G>A XP_011518554.1:p.Val214Met
XM_011520253.1:c.640G>A XP_011518555.1:p.Val214Met
XM_005253042.3:c.640G>A XP_005253099.1:p.Val214Met
XM_005253043.3:c.640G>A XP_005253100.1:p.Val214Met
NM_005055.5:c.640G>A MANE Select NP_005046.2:p.Val214Met
NM_032645.5:c.640G>A NP_116034.2:p.Val214Met