Canonical Allele Identifier: CA9607723
Gene: KLK13 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51058648C>T , CM000681.2:g.51058648C>T GRCh38
NC_000019.9:g.51561905C>T , CM000681.1:g.51561905C>T GRCh37
NC_000019.8:g.56253717C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000595793.6:c.535G>A MANE Select ENSP00000470555.1:p.Ala179Thr
ENST00000156476.6:c.*24G>A ENSP00000156476.2:n.*24G>A
ENST00000335422.3:c.79G>A ENSP00000334079.3:p.Ala27Thr
ENST00000376799.9:c.*31G>A ENSP00000365995.5:n.*31G>A
ENST00000441527.6:c.*609G>A ENSP00000392640.2:n.*609G>A
ENST00000595547.5:c.316G>A ENSP00000470245.1:p.Ala106Thr
ENST00000595793.5:c.535G>A ENSP00000470555.1:p.Ala179Thr
ENST00000601975.5:c.*322G>A ENSP00000470931.1:n.*322G>A
ENST00000602090.5:c.*318G>A ENSP00000472596.1:n.*318G>A
NM_015596.1:c.535G>A NP_056411.1:p.Ala179Thr
XR_935788.1:n.654G>A
NM_001348177.1:c.316G>A NP_001335106.1:p.Ala106Thr
NM_001348178.1:c.79G>A NP_001335107.1:p.Ala27Thr
NM_015596.2:c.535G>A NP_056411.1:p.Ala179Thr
NR_145463.1:n.367G>A
NR_145464.1:n.934G>A
NR_145465.1:n.643G>A
NR_145466.1:n.850G>A
NR_145467.1:n.559G>A
NM_015596.3:c.535G>A MANE Select NP_056411.1:p.Ala179Thr
NM_001348177.2:c.316G>A NP_001335106.1:p.Ala106Thr
NM_001348178.2:c.79G>A NP_001335107.1:p.Ala27Thr
NR_145463.2:n.349G>A
NR_145464.2:n.916G>A
NR_145465.2:n.625G>A
NR_145466.2:n.885G>A
NR_145467.2:n.594G>A