Canonical Allele Identifier: CA2674276110
Gene: POLK HGNC NCBI

Linked Data

gnomAD v4: 5-75547015-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75547015T>C , CM000667.2:g.75547015T>C GRCh38
NC_000005.9:g.74842840T>C , CM000667.1:g.74842840T>C GRCh37
NC_000005.8:g.74878596T>C NCBI36
NG_051590.1:g.40266T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000241436.9:c.-8T>C MANE Select ENSP00000241436.4:n.-8T>C
ENST00000241436.8:c.-8T>C ENSP00000241436.4:n.-8T>C
ENST00000503479.6:c.-63-5457T>C ENSP00000421997.2:n.-63-5457T>C
ENST00000505774.5:c.-8T>C ENSP00000421879.1:n.-8T>C
ENST00000506928.5:n.30T>C
ENST00000508867.5:n.6T>C
ENST00000510815.6:c.-249-5457T>C ENSP00000422094.2:n.-249-5457T>C
ENST00000514141.5:c.-8T>C ENSP00000423526.1:n.-8T>C
ENST00000514296.5:c.-8T>C ENSP00000425208.1:n.-8T>C
ENST00000515295.5:c.-8T>C ENSP00000424174.1:n.-8T>C
NM_016218.2:c.-8T>C NP_057302.1:n.-8T>C
XM_005248534.3:c.-8T>C XP_005248591.1:n.-8T>C
XM_005248536.2:c.-8T>C XP_005248593.1:n.-8T>C
XM_011543463.1:c.-8T>C XP_011541765.1:n.-8T>C
XM_011543464.1:c.-8T>C XP_011541766.1:n.-8T>C
XM_011543465.1:c.-8T>C XP_011541767.1:n.-8T>C
XM_011543466.1:c.-8T>C XP_011541768.1:n.-8T>C
XM_011543467.1:c.-392T>C XP_011541769.1:n.-392T>C
XM_011543468.1:c.-8T>C XP_011541770.1:n.-8T>C
XR_241783.2:n.89T>C
XR_241784.1:n.89T>C
XR_948273.1:n.159T>C
NM_001345921.1:c.-63-5457T>C NP_001332850.1:n.-63-5457T>C
NM_001345922.1:c.-392T>C NP_001332851.1:n.-392T>C
NM_016218.3:c.-8T>C NP_057302.1:n.-8T>C
NR_144315.1:n.171T>C
XM_005248534.5:c.-8T>C XP_005248591.1:n.-8T>C
XM_011543463.3:c.-8T>C XP_011541765.1:n.-8T>C
XM_011543464.3:c.-8T>C XP_011541766.1:n.-8T>C
XM_011543467.3:c.-392T>C XP_011541769.1:n.-392T>C
XM_017009559.2:c.-8T>C XP_016865048.1:n.-8T>C
XM_017009560.2:c.-8T>C XP_016865049.1:n.-8T>C
XM_017009561.2:c.-63-5457T>C XP_016865050.1:n.-63-5457T>C
XM_017009563.2:c.-392T>C XP_016865052.1:n.-392T>C
XR_001742105.2:n.613T>C
XR_001742107.2:n.613T>C
XR_001742108.2:n.159T>C
XR_002956163.1:n.613T>C
XR_241784.3:n.613T>C
XR_948273.3:n.159T>C
NM_001345922.2:c.-392T>C NP_001332851.1:n.-392T>C
NM_001387110.2:c.-8T>C NP_001374039.1:n.-8T>C
NM_001387111.2:c.-8T>C NP_001374040.1:n.-8T>C
NM_001387113.2:c.-8T>C NP_001374042.1:n.-8T>C
NM_016218.5:c.-8T>C NP_057302.1:n.-8T>C
NR_144315.2:n.30T>C
NR_170559.2:n.162-5457T>C
NR_170560.2:n.167T>C
NM_001345922.3:c.-392T>C NP_001332851.1:n.-392T>C
NM_001387110.3:c.-8T>C NP_001374039.1:n.-8T>C
NM_001387111.3:c.-8T>C NP_001374040.1:n.-8T>C
NM_001387113.3:c.-8T>C NP_001374042.1:n.-8T>C
NM_001395893.1:c.-392T>C NP_001382822.1:n.-392T>C
NM_001395894.1:c.-8T>C NP_001382823.1:n.-8T>C
NM_001395897.1:c.-8T>C NP_001382826.1:n.-8T>C
NM_001395899.1:c.-8T>C NP_001382828.1:n.-8T>C
NM_001395900.1:c.-63-5457T>C NP_001382829.1:n.-63-5457T>C
NM_001395901.1:c.-8T>C NP_001382830.1:n.-8T>C
NM_016218.6:c.-8T>C MANE Select NP_057302.1:n.-8T>C
NR_144315.3:n.30T>C
NR_170559.3:n.162-5457T>C
NR_170560.3:n.167T>C