Canonical Allele Identifier: CA9606499
Gene: KLK9 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51006611C>T
GRCh37 chr19:g.51509867C>T
Revel Score:
ENST00000376832 0.298
ENST00000250366 0.298
gnomAD v2:
19:51509867 C / T
gnomAD v3:
19:51006611 C / T
gnomAD v4:
chr19-51006611-C-T
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV004092534
ClinVar Variation:
2235257
dbSNP:
769326128
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51006611C>T , CM000681.2:g.51006611C>T GRCh38
NC_000019.9:g.51509867C>T , CM000681.1:g.51509867C>T GRCh37
NC_000019.8:g.56201679C>T NCBI36
NG_027832.1:g.8024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000594211.2:c.313G>A MANE Select ENSP00000469417.1:p.Ala105Thr
ENST00000250366.6:c.313G>A ENSP00000250366.5:p.Ala105Thr
ENST00000544410.1:c.156G>A ENSP00000443289.1:p.Ala52=
ENST00000594211.1:c.313G>A ENSP00000469417.1:p.Ala105Thr
NM_012315.1:c.313G>A NP_036447.1:p.Ala105Thr
NM_012315.2:c.313G>A MANE Select NP_036447.1:p.Ala105Thr
Search 100 bp 5'
Search 100 bp 3'