Canonical Allele Identifier: CA414193442

Gene: NKAP

Linked Data

• gnomAD v4: X-119930155-C-A
• MyVariant Identifiers: chrX:g.119064118C>A (hg19) ; chrX:g.119930155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119930155C>A , CM000685.2:g.119930155C>A	GRCh38
NC_000023.10:g.119064118C>A , CM000685.1:g.119064118C>A	GRCh37
NC_000023.9:g.118948146C>A	NCBI36
NG_021260.1:g.18618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371410.5:c.934G>T MANE Select	ENSP00000360464.3:p.Ala312Ser
ENST00000652253.1:c.930G>T
ENST00000371410.4:c.934G>T	ENSP00000360464.3:p.Ala312Ser
ENST00000477789.5:n.1862G>T
ENST00000482407.1:n.733G>T
NM_024528.3:c.934G>T	NP_078804.2:p.Ala312Ser
XM_017029842.1:c.637G>T	XP_016885331.1:p.Ala213Ser
NM_024528.4:c.934G>T MANE Select	NP_078804.2:p.Ala312Ser