Canonical Allele Identifier: CA9605661
Gene: KLK6 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50963401C>T , CM000681.2:g.50963401C>T GRCh38
NC_000019.9:g.51466657C>T , CM000681.1:g.51466657C>T GRCh37
NC_000019.8:g.56158469C>T NCBI36
NG_011825.1:g.11274G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310157.7:c.346G>A MANE Select ENSP00000309148.1:p.Ala116Thr
ENST00000310157.6:c.346G>A ENSP00000309148.1:p.Ala116Thr
ENST00000376851.7:c.346G>A ENSP00000366047.2:p.Ala116Thr
ENST00000376853.8:c.197+3768G>A ENSP00000366049.4:n.197+3768G>A
ENST00000391808.5:c.25G>A ENSP00000375684.1:p.Ala9Thr
ENST00000594641.1:c.346G>A ENSP00000470482.1:p.Ala116Thr
ENST00000597379.5:c.*66G>A ENSP00000469630.1:n.*66G>A
ENST00000599690.1:c.*66G>A ENSP00000469702.1:n.*66G>A
ENST00000599881.5:c.*66G>A ENSP00000471948.1:n.*66G>A
NM_001012964.1:c.346G>A NP_001012982.1:p.Ala116Thr
NM_001012965.1:c.25G>A NP_001012983.1:p.Ala9Thr
NM_002774.3:c.346G>A NP_002765.1:p.Ala116Thr
NM_001012964.2:c.346G>A NP_001012982.1:p.Ala116Thr
NM_001012965.2:c.25G>A NP_001012983.1:p.Ala9Thr
NM_001319948.1:c.25G>A NP_001306877.1:p.Ala9Thr
NM_001319949.1:c.25G>A NP_001306878.1:p.Ala9Thr
XM_024451611.1:c.25G>A XP_024307379.1:p.Ala9Thr
XR_001753976.1:n.52-3924C>T
XR_001753977.1:n.52-3924C>T
XR_001753978.1:n.52-3924C>T
XR_001753979.1:n.52-3924C>T
NM_002774.4:c.346G>A MANE Select NP_002765.1:p.Ala116Thr
NM_001319948.2:c.25G>A NP_001306877.1:p.Ala9Thr
NM_001012964.3:c.346G>A NP_001012982.1:p.Ala116Thr
NM_001012965.3:c.25G>A NP_001012983.1:p.Ala9Thr
NM_001319949.2:c.25G>A NP_001306878.1:p.Ala9Thr