Canonical Allele Identifier: CA2739359920
Gene: RAPSN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437822A>C , CM000673.2:g.47437822A>C GRCh38
NC_000011.9:g.47459373A>C , CM000673.1:g.47459373A>C GRCh37
NC_000011.8:g.47415949A>C NCBI36
NG_008312.1:g.16358T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*153T>G MANE Select ENSP00000298854.2:n.*153T>G
ENST00000298854.6:c.*153T>G ENSP00000298854.2:n.*153T>G
ENST00000352508.7:c.*153T>G ENSP00000298853.3:n.*153T>G
ENST00000524487.5:c.*153T>G ENSP00000435551.2:n.*153T>G
ENST00000528356.1:n.347T>G
NM_005055.4:c.*153T>G NP_005046.2:n.*153T>G
NM_032645.4:c.*153T>G NP_116034.2:n.*153T>G
XM_011520252.1:c.1477T>G XP_011518554.1:p.Ser493Ala
NM_005055.5:c.*153T>G MANE Select NP_005046.2:n.*153T>G
NM_032645.5:c.*153T>G NP_116034.2:n.*153T>G
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