Canonical Allele Identifier: CA3682805
Gene: NKAPL HGNC NCBI
COSMIC:
COSM3761753 (not active)
MyVariant.info:
GRCh38 chr6:g.28259658A>G
GRCh37 chr6:g.28227436A>G
Revel Score:
ENST00000343684 (MANE Select) 0.051
gnomAD v2:
6:28227436 A / G
gnomAD v3:
6:28259658 A / G
gnomAD v4:
chr6-28259658-A-G
Joint Max Group AF 0.60365882 (AFR)
Genomes Max Group AF 0.59404745 (AFR)
Exomes Max Group AF 0.61126408 (AFR)
dbSNP:
12000
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.28259658A>G , CM000668.2:g.28259658A>G GRCh38
NC_000006.11:g.28227436A>G , CM000668.1:g.28227436A>G GRCh37
NC_000006.10:g.28335415A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343684.4:c.287A>G MANE Select ENSP00000345716.3:p.Tyr96Cys
ENST00000343684.3:c.287A>G ENSP00000345716.3:p.Tyr96Cys
NM_001007531.2:c.287A>G NP_001007532.1:p.Tyr96Cys
NM_001007531.3:c.287A>G MANE Select NP_001007532.1:p.Tyr96Cys
Search 100 bp 5'
Search 100 bp 3'