Canonical Allele Identifier: CA10503724
Gene: NKAP HGNC NCBI

Linked Data

dbSNP Id: rs149796824
ExAC: X:119064113 C / T
gnomAD v2: X-119064113-C-T
gnomAD v3: X-119930150-C-T
gnomAD v4: X-119930150-C-T
MyVariant Identifiers: chrX:g.119064113C>T (hg19) chrX:g.119930150C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119930150C>T , CM000685.2:g.119930150C>T GRCh38
NC_000023.10:g.119064113C>T , CM000685.1:g.119064113C>T GRCh37
NC_000023.9:g.118948141C>T NCBI36
NG_021260.1:g.18623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371410.5:c.939G>A MANE Select ENSP00000360464.3:p.Leu313=
ENST00000652253.1:c.935G>A
ENST00000371410.4:c.939G>A ENSP00000360464.3:p.Leu313=
ENST00000477789.5:n.1867G>A
ENST00000482407.1:n.738G>A
NM_024528.3:c.939G>A NP_078804.2:p.Leu313=
XM_017029842.1:c.642G>A XP_016885331.1:p.Leu214=
NM_024528.4:c.939G>A MANE Select NP_078804.2:p.Leu313=
Search 100 bp 5'
Search 100 bp 3'