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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:
CA414193176
Gene: NKAP
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.119064000C>G (hg19)
chrX:g.119930037C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.119930037C>G , CM000685.2:g.119930037C>G
GRCh38
NC_000023.10:g.119064000C>G , CM000685.1:g.119064000C>G
GRCh37
NC_000023.9:g.118948028C>G
NCBI36
NG_021260.1:g.18736G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000371410.5:c.1052G>C
MANE Select
ENSP00000360464.3:p.Gly351Ala
ENST00000652253.1:c.1048G>C
ENST00000371410.4:c.1052G>C
ENSP00000360464.3:p.Gly351Ala
ENST00000477789.5:n.1980G>C
NM_024528.3:c.1052G>C
NP_078804.2:p.Gly351Ala
XM_017029842.1:c.755G>C
XP_016885331.1:p.Gly252Ala
NM_024528.4:c.1052G>C
MANE Select
NP_078804.2:p.Gly351Ala
Search 100 bp 5'
Search 100 bp 3'