Canonical Allele Identifier: CA414193414

Gene: NKAP

Linked Data

• MyVariant Identifiers: chrX:g.119064103C>T (hg19) ; chrX:g.119930140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119930140C>T , CM000685.2:g.119930140C>T	GRCh38
NC_000023.10:g.119064103C>T , CM000685.1:g.119064103C>T	GRCh37
NC_000023.9:g.118948131C>T	NCBI36
NG_021260.1:g.18633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371410.5:c.949G>A MANE Select	ENSP00000360464.3:p.Glu317Lys
ENST00000652253.1:c.945G>A
ENST00000371410.4:c.949G>A	ENSP00000360464.3:p.Glu317Lys
ENST00000477789.5:n.1877G>A
ENST00000482407.1:n.748G>A
NM_024528.3:c.949G>A	NP_078804.2:p.Glu317Lys
XM_017029842.1:c.652G>A	XP_016885331.1:p.Glu218Lys
NM_024528.4:c.949G>A MANE Select	NP_078804.2:p.Glu317Lys