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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:
CA414193180
Gene: NKAP
HGNC
NCBI
Linked Data
dbSNP Id:
rs2147845250
MyVariant Identifiers:
chrX:g.119064003G>A (hg19)
chrX:g.119930040G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.119930040G>A , CM000685.2:g.119930040G>A
GRCh38
NC_000023.10:g.119064003G>A , CM000685.1:g.119064003G>A
GRCh37
NC_000023.9:g.118948031G>A
NCBI36
NG_021260.1:g.18733C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000371410.5:c.1049C>T
MANE Select
ENSP00000360464.3:p.Ser350Leu
ENST00000652253.1:c.1045C>T
ENST00000371410.4:c.1049C>T
ENSP00000360464.3:p.Ser350Leu
ENST00000477789.5:n.1977C>T
NM_024528.3:c.1049C>T
NP_078804.2:p.Ser350Leu
XM_017029842.1:c.752C>T
XP_016885331.1:p.Ser251Leu
NM_024528.4:c.1049C>T
MANE Select
NP_078804.2:p.Ser350Leu
Search 100 bp 5'
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