Canonical Allele Identifier: CA2739359981
Gene: RAPSN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437873T>G , CM000673.2:g.47437873T>G GRCh38
NC_000011.9:g.47459424T>G , CM000673.1:g.47459424T>G GRCh37
NC_000011.8:g.47416000T>G NCBI36
NG_008312.1:g.16307A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*102A>C MANE Select ENSP00000298854.2:n.*102A>C
ENST00000298854.6:c.*102A>C ENSP00000298854.2:n.*102A>C
ENST00000352508.7:c.*102A>C ENSP00000298853.3:n.*102A>C
ENST00000524487.5:c.*102A>C ENSP00000435551.2:n.*102A>C
ENST00000528356.1:n.296A>C
NM_005055.4:c.*102A>C NP_005046.2:n.*102A>C
NM_032645.4:c.*102A>C NP_116034.2:n.*102A>C
XM_011520252.1:c.1426A>C XP_011518554.1:p.Thr476Pro
NM_005055.5:c.*102A>C MANE Select NP_005046.2:n.*102A>C
NM_032645.5:c.*102A>C NP_116034.2:n.*102A>C
Search 100 bp 5'
Search 100 bp 3'