Canonical Allele Identifier: CA444695601

Gene: POLK

Linked Data

• gnomAD v4: 5-75597994-T-C
• MyVariant Identifiers: chr5:g.74893819T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597994T>C , CM000667.2:g.75597994T>C	GRCh38
NC_000005.9:g.74893819T>C , CM000667.1:g.74893819T>C	GRCh37
NC_000005.8:g.74929575T>C	NCBI36
NG_051590.1:g.91245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2589T>C MANE Select	ENSP00000241436.4:p.His863=
ENST00000241436.8:c.2589T>C	ENSP00000241436.4:p.His863=
ENST00000503479.6:c.*1112T>C	ENSP00000421997.2:n.*1112T>C
ENST00000504026.5:c.1460T>C	ENSP00000425075.1:n.1460T>C
ENST00000505069.1:n.313T>C
ENST00000505975.5:c.2703T>C	ENSP00000424859.1:n.2703T>C
ENST00000506928.5:n.2712T>C
ENST00000508526.5:c.1995T>C	ENSP00000426853.1:p.His665=
ENST00000509126.2:c.2417T>C	ENSP00000423532.1:n.2417T>C
ENST00000510815.6:c.*1112T>C	ENSP00000422094.2:n.*1112T>C
ENST00000511527.5:c.1574T>C	ENSP00000420997.1:n.1574T>C
ENST00000514141.5:c.*1208T>C	ENSP00000423526.1:n.*1208T>C
NM_016218.2:c.2589T>C	NP_057302.1:p.His863=
XM_005248534.3:c.2631T>C	XP_005248591.1:p.His877=
XM_006714652.2:c.1344T>C	XP_006714715.1:p.His448=
XM_011543463.1:c.2631T>C	XP_011541765.1:p.His877=
XM_011543464.1:c.2631T>C	XP_011541766.1:p.His877=
XM_011543465.1:c.2631T>C	XP_011541767.1:p.His877=
XM_011543466.1:c.2631T>C	XP_011541768.1:p.His877=
XM_011543467.1:c.2361T>C	XP_011541769.1:p.His787=
XR_241784.1:n.2597T>C
XR_948273.1:n.2781T>C
NM_001345921.1:c.2391T>C	NP_001332850.1:p.His797=
NM_001345922.1:c.2319T>C	NP_001332851.1:p.His773=
NM_016218.3:c.2589T>C	NP_057302.1:p.His863=
NR_144315.1:n.2595T>C
XM_005248534.5:c.2631T>C	XP_005248591.1:p.His877=
XM_006714652.4:c.1344T>C	XP_006714715.1:p.His448=
XM_011543463.3:c.2631T>C	XP_011541765.1:p.His877=
XM_011543464.3:c.2631T>C	XP_011541766.1:p.His877=
XM_011543467.3:c.2361T>C	XP_011541769.1:p.His787=
XM_017009559.2:c.2589T>C	XP_016865048.1:p.His863=
XM_017009560.2:c.2589T>C	XP_016865049.1:p.His863=
XM_017009561.2:c.2433T>C	XP_016865050.1:p.His811=
XM_017009563.2:c.2319T>C	XP_016865052.1:p.His773=
XR_001742105.2:n.3079T>C
XR_001742107.2:n.3163T>C
XR_001742108.2:n.2697T>C
XR_241784.3:n.3121T>C
XR_948273.3:n.2781T>C
NM_001345921.2:c.2391T>C	NP_001332850.1:p.His797=
NM_001345922.2:c.2319T>C	NP_001332851.1:p.His773=
NM_001387110.2:c.2580T>C	NP_001374039.1:p.His860=
NM_001387111.2:c.2631T>C	NP_001374040.1:p.His877=
NM_001387113.2:c.2589T>C	NP_001374042.1:p.His863=
NM_016218.5:c.2589T>C	NP_057302.1:p.His863=
NR_144315.2:n.2454T>C
NR_170559.2:n.2443T>C
NR_170560.2:n.2675T>C
NM_001345921.3:c.2391T>C	NP_001332850.1:p.His797=
NM_001345922.3:c.2319T>C	NP_001332851.1:p.His773=
NM_001387110.3:c.2580T>C	NP_001374039.1:p.His860=
NM_001387111.3:c.2631T>C	NP_001374040.1:p.His877=
NM_001387113.3:c.2589T>C	NP_001374042.1:p.His863=
NM_001395893.1:c.2319T>C	NP_001382822.1:p.His773=
NM_001395894.1:c.2631T>C	NP_001382823.1:p.His877=
NM_001395897.1:c.2628T>C	NP_001382826.1:p.His876=
NM_001395899.1:c.2436T>C	NP_001382828.1:p.His812=
NM_001395900.1:c.2391T>C	NP_001382829.1:p.His797=
NM_001395901.1:c.2349T>C	NP_001382830.1:p.His783=
NM_001395902.1:c.2319T>C	NP_001382831.1:p.His773=
NM_016218.6:c.2589T>C MANE Select	NP_057302.1:p.His863=
NR_144315.3:n.2454T>C
NR_170559.3:n.2443T>C
NR_170560.3:n.2675T>C