Canonical Allele Identifier: CA249381351
Gene: KPNA3 HGNC NCBI

Linked Data

dbSNP Id: rs138070936
gnomAD v2: 13-50306184-G-A
gnomAD v3: 13-49732048-G-A
gnomAD v4: 13-49732048-G-A
MyVariant Identifiers: chr13:g.50306184G>A (hg19) chr13:g.49732048G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49732048G>A , CM000675.2:g.49732048G>A GRCh38
NC_000013.10:g.50306184G>A , CM000675.1:g.50306184G>A GRCh37
NC_000013.9:g.49204185G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261667.8:c.383+323C>T MANE Select ENSP00000261667.3:n.383+323C>T
ENST00000261667.7:c.383+323C>T ENSP00000261667.3:n.383+323C>T
NM_002267.3:c.383+323C>T NP_002258.2:n.383+323C>T
XM_017020561.1:c.311+323C>T XP_016876050.1:n.311+323C>T
NM_002267.4:c.383+323C>T MANE Select NP_002258.2:n.383+323C>T
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