Canonical Allele Identifier: CA414193207
Gene: NKAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119930050A>G , CM000685.2:g.119930050A>G GRCh38
NC_000023.10:g.119064013A>G , CM000685.1:g.119064013A>G GRCh37
NC_000023.9:g.118948041A>G NCBI36
NG_021260.1:g.18723T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371410.5:c.1039T>C MANE Select ENSP00000360464.3:p.Phe347Leu
ENST00000652253.1:c.1035T>C
ENST00000371410.4:c.1039T>C ENSP00000360464.3:p.Phe347Leu
ENST00000477789.5:n.1967T>C
NM_024528.3:c.1039T>C NP_078804.2:p.Phe347Leu
XM_017029842.1:c.742T>C XP_016885331.1:p.Phe248Leu
NM_024528.4:c.1039T>C MANE Select NP_078804.2:p.Phe347Leu