Canonical Allele Identifier: CA2613404456
Gene: RAPSN HGNC NCBI

Linked Data

gnomAD v4: 11-47437881-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437881A>G , CM000673.2:g.47437881A>G GRCh38
NC_000011.9:g.47459432A>G , CM000673.1:g.47459432A>G GRCh37
NC_000011.8:g.47416008A>G NCBI36
NG_008312.1:g.16299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*94T>C MANE Select ENSP00000298854.2:n.*94T>C
ENST00000298854.6:c.*94T>C ENSP00000298854.2:n.*94T>C
ENST00000352508.7:c.*94T>C ENSP00000298853.3:n.*94T>C
ENST00000524487.5:c.*94T>C ENSP00000435551.2:n.*94T>C
ENST00000528356.1:n.288T>C
NM_005055.4:c.*94T>C NP_005046.2:n.*94T>C
NM_032645.4:c.*94T>C NP_116034.2:n.*94T>C
XM_011520252.1:c.1418T>C XP_011518554.1:p.Val473Ala
NM_005055.5:c.*94T>C MANE Select NP_005046.2:n.*94T>C
NM_032645.5:c.*94T>C NP_116034.2:n.*94T>C
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