Canonical Allele Identifier: CA3682839
Gene: NKAPL HGNC NCBI
COSMIC:
COSM3761754 (not active)
MyVariant.info:
GRCh38 chr6:g.28259855C>T
GRCh37 chr6:g.28227633C>T
Revel Score:
ENST00000343684 (MANE Select) 0.013
gnomAD v2:
6:28227633 C / T
gnomAD v3:
6:28259855 C / T
gnomAD v4:
chr6-28259855-C-T
Joint Max Group AF 0.14085737 (EAS)
Genomes Max Group AF 0.11025755 (EAS)
Exomes Max Group AF 0.14400055 (EAS)
dbSNP:
9461446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.28259855C>T , CM000668.2:g.28259855C>T GRCh38
NC_000006.11:g.28227633C>T , CM000668.1:g.28227633C>T GRCh37
NC_000006.10:g.28335612C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343684.4:c.484C>T MANE Select ENSP00000345716.3:p.His162Tyr
ENST00000343684.3:c.484C>T ENSP00000345716.3:p.His162Tyr
NM_001007531.2:c.484C>T NP_001007532.1:p.His162Tyr
NM_001007531.3:c.484C>T MANE Select NP_001007532.1:p.His162Tyr
Search 100 bp 5'
Search 100 bp 3'