Canonical Allele Identifier: CA1077608296

Gene: POLK

Linked Data

• dbSNP Id: rs1773188636
• gnomAD v3: 5-75598117-A-C
• gnomAD v4: 5-75598117-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598117A>C , CM000667.2:g.75598117A>C	GRCh38
NC_000005.9:g.74893942A>C , CM000667.1:g.74893942A>C	GRCh37
NC_000005.8:g.74929698A>C	NCBI36
NG_051590.1:g.91368A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.*99A>C MANE Select	ENSP00000241436.4:n.*99A>C
ENST00000241436.8:c.*99A>C	ENSP00000241436.4:n.*99A>C
ENST00000506928.5:n.2835A>C
ENST00000510815.6:c.*1235A>C	ENSP00000422094.2:n.*1235A>C
ENST00000514141.5:c.*1331A>C	ENSP00000423526.1:n.*1331A>C
NM_016218.2:c.*99A>C	NP_057302.1:n.*99A>C
XM_005248534.3:c.*99A>C	XP_005248591.1:n.*99A>C
XM_006714652.2:c.*99A>C	XP_006714715.1:n.*99A>C
XM_011543463.1:c.*99A>C	XP_011541765.1:n.*99A>C
XM_011543464.1:c.*99A>C	XP_011541766.1:n.*99A>C
XM_011543465.1:c.*99A>C	XP_011541767.1:n.*99A>C
XM_011543466.1:c.*99A>C	XP_011541768.1:n.*99A>C
XM_011543467.1:c.*99A>C	XP_011541769.1:n.*99A>C
XR_948273.1:n.2904A>C
NM_001345921.1:c.*99A>C	NP_001332850.1:n.*99A>C
NM_001345922.1:c.*99A>C	NP_001332851.1:n.*99A>C
NM_016218.3:c.*99A>C	NP_057302.1:n.*99A>C
NR_144315.1:n.2718A>C
XM_005248534.5:c.*99A>C	XP_005248591.1:n.*99A>C
XM_006714652.4:c.*99A>C	XP_006714715.1:n.*99A>C
XM_011543463.3:c.*99A>C	XP_011541765.1:n.*99A>C
XM_011543464.3:c.*99A>C	XP_011541766.1:n.*99A>C
XM_011543467.3:c.*99A>C	XP_011541769.1:n.*99A>C
XM_017009559.2:c.*99A>C	XP_016865048.1:n.*99A>C
XM_017009560.2:c.*99A>C	XP_016865049.1:n.*99A>C
XM_017009561.2:c.*99A>C	XP_016865050.1:n.*99A>C
XM_017009563.2:c.*99A>C	XP_016865052.1:n.*99A>C
XR_001742105.2:n.3202A>C
XR_001742107.2:n.3286A>C
XR_001742108.2:n.2820A>C
XR_241784.3:n.3244A>C
XR_948273.3:n.2904A>C
NM_001345921.2:c.*99A>C	NP_001332850.1:n.*99A>C
NM_001345922.2:c.*99A>C	NP_001332851.1:n.*99A>C
NM_001387110.2:c.*99A>C	NP_001374039.1:n.*99A>C
NM_001387111.2:c.*99A>C	NP_001374040.1:n.*99A>C
NM_001387113.2:c.*99A>C	NP_001374042.1:n.*99A>C
NM_016218.5:c.*99A>C	NP_057302.1:n.*99A>C
NR_144315.2:n.2577A>C
NR_170559.2:n.2566A>C
NR_170560.2:n.2798A>C
NM_001345921.3:c.*99A>C	NP_001332850.1:n.*99A>C
NM_001345922.3:c.*99A>C	NP_001332851.1:n.*99A>C
NM_001387110.3:c.*99A>C	NP_001374039.1:n.*99A>C
NM_001387111.3:c.*99A>C	NP_001374040.1:n.*99A>C
NM_001387113.3:c.*99A>C	NP_001374042.1:n.*99A>C
NM_001395893.1:c.*99A>C	NP_001382822.1:n.*99A>C
NM_001395894.1:c.*99A>C	NP_001382823.1:n.*99A>C
NM_001395897.1:c.*99A>C	NP_001382826.1:n.*99A>C
NM_001395899.1:c.*99A>C	NP_001382828.1:n.*99A>C
NM_001395900.1:c.*99A>C	NP_001382829.1:n.*99A>C
NM_001395901.1:c.*99A>C	NP_001382830.1:n.*99A>C
NM_001395902.1:c.*99A>C	NP_001382831.1:n.*99A>C
NM_016218.6:c.*99A>C MANE Select	NP_057302.1:n.*99A>C
NR_144315.3:n.2577A>C
NR_170559.3:n.2566A>C
NR_170560.3:n.2798A>C