Canonical Allele Identifier: CA5976446
Gene: RAPSN HGNC NCBI

Linked Data

dbSNP Id: rs766293141
ExAC: 11:47459433 C / T
gnomAD v2: 11-47459433-C-T
gnomAD v3: 11-47437882-C-T
gnomAD v4: 11-47437882-C-T
MyVariant Identifiers: chr11:g.47459433C>T (hg19) chr11:g.47437882C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437882C>T , CM000673.2:g.47437882C>T GRCh38
NC_000011.9:g.47459433C>T , CM000673.1:g.47459433C>T GRCh37
NC_000011.8:g.47416009C>T NCBI36
NG_008312.1:g.16298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*93G>A MANE Select ENSP00000298854.2:n.*93G>A
ENST00000298854.6:c.*93G>A ENSP00000298854.2:n.*93G>A
ENST00000352508.7:c.*93G>A ENSP00000298853.3:n.*93G>A
ENST00000524487.5:c.*93G>A ENSP00000435551.2:n.*93G>A
ENST00000528356.1:n.287G>A
NM_005055.4:c.*93G>A NP_005046.2:n.*93G>A
NM_032645.4:c.*93G>A NP_116034.2:n.*93G>A
XM_011520252.1:c.1417G>A XP_011518554.1:p.Val473Ile
NM_005055.5:c.*93G>A MANE Select NP_005046.2:n.*93G>A
NM_032645.5:c.*93G>A NP_116034.2:n.*93G>A
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