Canonical Allele Identifier: CA3682838
Gene: NKAPL HGNC NCBI

Linked Data

dbSNP Id: rs1635
gnomAD v2: 6-28227604-C-A
gnomAD v3: 6-28259826-C-A
gnomAD v4: 6-28259826-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.28259826C>A , CM000668.2:g.28259826C>A GRCh38
NC_000006.11:g.28227604C>A , CM000668.1:g.28227604C>A GRCh37
NC_000006.10:g.28335583C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000343684.4:c.455C>A MANE Select ENSP00000345716.3:p.Thr152Asn
ENST00000343684.3:c.455C>A ENSP00000345716.3:p.Thr152Asn
NM_001007531.2:c.455C>A NP_001007532.1:p.Thr152Asn
NM_001007531.3:c.455C>A MANE Select NP_001007532.1:p.Thr152Asn