Canonical Allele Identifier: CA249381379
Gene: KPNA3 HGNC NCBI

Linked Data

dbSNP Id: rs890786986
gnomAD v3: 13-49732097-C-T
gnomAD v4: 13-49732097-C-T
MyVariant Identifiers: chr13:g.50306233C>T (hg19) chr13:g.49732097C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49732097C>T , CM000675.2:g.49732097C>T GRCh38
NC_000013.10:g.50306233C>T , CM000675.1:g.50306233C>T GRCh37
NC_000013.9:g.49204234C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261667.8:c.383+274G>A MANE Select ENSP00000261667.3:n.383+274G>A
ENST00000261667.7:c.383+274G>A ENSP00000261667.3:n.383+274G>A
NM_002267.3:c.383+274G>A NP_002258.2:n.383+274G>A
XM_017020561.1:c.311+274G>A XP_016876050.1:n.311+274G>A
NM_002267.4:c.383+274G>A MANE Select NP_002258.2:n.383+274G>A
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