Canonical Allele Identifier: CA249381359
Gene: KPNA3 HGNC NCBI

Linked Data

dbSNP Id: rs549656589
gnomAD v3: 13-49732059-A-G
gnomAD v4: 13-49732059-A-G
MyVariant Identifiers: chr13:g.50306195A>G (hg19) chr13:g.49732059A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49732059A>G , CM000675.2:g.49732059A>G GRCh38
NC_000013.10:g.50306195A>G , CM000675.1:g.50306195A>G GRCh37
NC_000013.9:g.49204196A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261667.8:c.383+312T>C MANE Select ENSP00000261667.3:n.383+312T>C
ENST00000261667.7:c.383+312T>C ENSP00000261667.3:n.383+312T>C
NM_002267.3:c.383+312T>C NP_002258.2:n.383+312T>C
XM_017020561.1:c.311+312T>C XP_016876050.1:n.311+312T>C
NM_002267.4:c.383+312T>C MANE Select NP_002258.2:n.383+312T>C
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