Canonical Allele Identifier: CA362935171

Gene: NKAPL

Linked Data

• dbSNP Id: rs1635
• gnomAD v2: 6-28227604-C-T
• MyVariant Identifiers: chr6:g.28227604C>T (hg19) ; chr6:g.28259826C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343684.4:c.455C>T MANE Select	ENSP00000345716.3:p.Thr152Ile
ENST00000343684.3:c.455C>T	ENSP00000345716.3:p.Thr152Ile
NM_001007531.2:c.455C>T	NP_001007532.1:p.Thr152Ile
NM_001007531.3:c.455C>T MANE Select	NP_001007532.1:p.Thr152Ile