Canonical Allele Identifier: CA414193300
Gene: NKAP HGNC NCBI

Linked Data

ClinVar Variation Id: 827653
ClinVar RCV Id: RCV001027519

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119930091C>T , CM000685.2:g.119930091C>T GRCh38
NC_000023.10:g.119064054C>T , CM000685.1:g.119064054C>T GRCh37
NC_000023.9:g.118948082C>T NCBI36
NG_021260.1:g.18682G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371410.5:c.998G>A MANE Select ENSP00000360464.3:p.Arg333Gln
ENST00000652253.1:n.994G>A
ENST00000371410.4:c.998G>A ENSP00000360464.3:p.Arg333Gln
ENST00000477789.5:n.1926G>A
NM_024528.3:c.998G>A NP_078804.2:p.Arg333Gln
XM_017029842.1:c.701G>A XP_016885331.1:p.Arg234Gln
NM_024528.4:c.998G>A MANE Select NP_078804.2:p.Arg333Gln