Canonical Allele Identifier: CA414193210
Gene: NKAP HGNC NCBI

Linked Data

ClinVar Variation Id: 3220862
ClinVar RCV Id: RCV004515749
MyVariant Identifiers: chrX:g.119064015G>A (hg19) chrX:g.119930052G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119930052G>A , CM000685.2:g.119930052G>A GRCh38
NC_000023.10:g.119064015G>A , CM000685.1:g.119064015G>A GRCh37
NC_000023.9:g.118948043G>A NCBI36
NG_021260.1:g.18721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371410.5:c.1037C>T MANE Select ENSP00000360464.3:p.Ser346Leu
ENST00000652253.1:c.1033C>T
ENST00000371410.4:c.1037C>T ENSP00000360464.3:p.Ser346Leu
ENST00000477789.5:n.1965C>T
NM_024528.3:c.1037C>T NP_078804.2:p.Ser346Leu
XM_017029842.1:c.740C>T XP_016885331.1:p.Ser247Leu
NM_024528.4:c.1037C>T MANE Select NP_078804.2:p.Ser346Leu
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