Canonical Allele Identifier: CA9606487
Gene: KLK9 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51006518A>G
GRCh37 chr19:g.51509774A>G
Revel Score:
ENST00000376832 0.540
ENST00000250366 0.540
gnomAD v2:
19:51509774 A / G
gnomAD v3:
19:51006518 A / G
gnomAD v4:
chr19-51006518-A-G
Joint Max Group AF 0.00005878 (NFE)
Genomes Max Group AF 0.00002849 (NFE)
Exomes Max Group AF 0.00005799 (NFE)
ClinVar RCV:
RCV004240481
ClinVar Variation:
2399992
dbSNP:
370862501
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51006518A>G , CM000681.2:g.51006518A>G GRCh38
NC_000019.9:g.51509774A>G , CM000681.1:g.51509774A>G GRCh37
NC_000019.8:g.56201586A>G NCBI36
NG_027832.1:g.8117T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000594211.2:c.406T>C MANE Select ENSP00000469417.1:p.Cys136Arg
ENST00000250366.6:c.406T>C ENSP00000250366.5:p.Cys136Arg
ENST00000544410.1:c.*63T>C ENSP00000443289.1:n.*63T>C
ENST00000594211.1:c.406T>C ENSP00000469417.1:p.Cys136Arg
NM_012315.1:c.406T>C NP_036447.1:p.Cys136Arg
NM_012315.2:c.406T>C MANE Select NP_036447.1:p.Cys136Arg
Search 100 bp 5'
Search 100 bp 3'