Canonical Allele Identifier: CA9606522
Gene: KLK9 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51006710G>A
GRCh37 chr19:g.51509966G>A
Revel Score:
ENST00000376832 0.808
ENST00000250366 0.808
gnomAD v2:
19:51509966 G / A
gnomAD v3:
19:51006710 G / A
gnomAD v4:
chr19-51006710-G-A
Joint Max Group AF 0.00009296 (AMR)
Genomes Max Group AF 0.00002267 (AMR)
Exomes Max Group AF 0.00009224 (AMR)
ClinVar RCV:
RCV004200371
ClinVar Variation:
2366910
dbSNP:
201756678
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51006710G>A , CM000681.2:g.51006710G>A GRCh38
NC_000019.9:g.51509966G>A , CM000681.1:g.51509966G>A GRCh37
NC_000019.8:g.56201778G>A NCBI36
NG_027832.1:g.7925C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000594211.2:c.214C>T MANE Select ENSP00000469417.1:p.Arg72Cys
ENST00000250366.6:c.214C>T ENSP00000250366.5:p.Arg72Cys
ENST00000544410.1:c.57C>T ENSP00000443289.1:p.Ser19=
ENST00000594211.1:c.214C>T ENSP00000469417.1:p.Arg72Cys
NM_012315.1:c.214C>T NP_036447.1:p.Arg72Cys
NM_012315.2:c.214C>T MANE Select NP_036447.1:p.Arg72Cys
Search 100 bp 5'
Search 100 bp 3'