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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA414193313
Gene: NKAP
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.119064060A>G (hg19)
chrX:g.119930097A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.119930097A>G , CM000685.2:g.119930097A>G
GRCh38
NC_000023.10:g.119064060A>G , CM000685.1:g.119064060A>G
GRCh37
NC_000023.9:g.118948088A>G
NCBI36
NG_021260.1:g.18676T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000371410.5:c.992T>C
MANE Select
ENSP00000360464.3:p.Ile331Thr
ENST00000652253.1:c.988T>C
ENST00000371410.4:c.992T>C
ENSP00000360464.3:p.Ile331Thr
ENST00000477789.5:n.1920T>C
NM_024528.3:c.992T>C
NP_078804.2:p.Ile331Thr
XM_017029842.1:c.695T>C
XP_016885331.1:p.Ile232Thr
NM_024528.4:c.992T>C
MANE Select
NP_078804.2:p.Ile331Thr
Search 100 bp 5'
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