Canonical Allele Identifier: CA2739359977
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437872G>C , CM000673.2:g.47437872G>C GRCh38
NC_000011.9:g.47459423G>C , CM000673.1:g.47459423G>C GRCh37
NC_000011.8:g.47415999G>C NCBI36
NG_008312.1:g.16308C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*103C>G MANE Select ENSP00000298854.2:n.*103C>G
ENST00000298854.6:c.*103C>G ENSP00000298854.2:n.*103C>G
ENST00000352508.7:c.*103C>G ENSP00000298853.3:n.*103C>G
ENST00000524487.5:c.*103C>G ENSP00000435551.2:n.*103C>G
ENST00000528356.1:n.297C>G
NM_005055.4:c.*103C>G NP_005046.2:n.*103C>G
NM_032645.4:c.*103C>G NP_116034.2:n.*103C>G
XM_011520252.1:c.1427C>G XP_011518554.1:p.Thr476Ser
NM_005055.5:c.*103C>G MANE Select NP_005046.2:n.*103C>G
NM_032645.5:c.*103C>G NP_116034.2:n.*103C>G