Canonical Allele Identifier: CA2674276104

Gene: POLK

Linked Data

• gnomAD v4: 5-75547008-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75547008A>G , CM000667.2:g.75547008A>G	GRCh38
NC_000005.9:g.74842833A>G , CM000667.1:g.74842833A>G	GRCh37
NC_000005.8:g.74878589A>G	NCBI36
NG_051590.1:g.40259A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.-13-2A>G MANE Select	ENSP00000241436.4:n.-13-2A>G
ENST00000241436.8:c.-13-2A>G	ENSP00000241436.4:n.-13-2A>G
ENST00000503479.6:c.-63-5464A>G	ENSP00000421997.2:n.-63-5464A>G
ENST00000505774.5:c.-13-2A>G	ENSP00000421879.1:n.-13-2A>G
ENST00000506928.5:n.25-2A>G
ENST00000510815.6:c.-249-5464A>G	ENSP00000422094.2:n.-249-5464A>G
ENST00000514296.5:c.-13-2A>G	ENSP00000425208.1:n.-13-2A>G
NM_016218.2:c.-13-2A>G	NP_057302.1:n.-13-2A>G
XM_005248534.3:c.-13-2A>G	XP_005248591.1:n.-13-2A>G
XM_005248536.2:c.-13-2A>G	XP_005248593.1:n.-13-2A>G
XM_011543463.1:c.-13-2A>G	XP_011541765.1:n.-13-2A>G
XM_011543464.1:c.-13-2A>G	XP_011541766.1:n.-13-2A>G
XM_011543465.1:c.-13-2A>G	XP_011541767.1:n.-13-2A>G
XM_011543466.1:c.-13-2A>G	XP_011541768.1:n.-13-2A>G
XM_011543467.1:c.-397-2A>G	XP_011541769.1:n.-397-2A>G
XM_011543468.1:c.-13-2A>G	XP_011541770.1:n.-13-2A>G
XR_241783.2:n.84-2A>G
XR_241784.1:n.84-2A>G
XR_948273.1:n.154-2A>G
NM_001345921.1:c.-63-5464A>G	NP_001332850.1:n.-63-5464A>G
NM_001345922.1:c.-397-2A>G	NP_001332851.1:n.-397-2A>G
NM_016218.3:c.-13-2A>G	NP_057302.1:n.-13-2A>G
NR_144315.1:n.166-2A>G
XM_005248534.5:c.-13-2A>G	XP_005248591.1:n.-13-2A>G
XM_011543463.3:c.-13-2A>G	XP_011541765.1:n.-13-2A>G
XM_011543464.3:c.-13-2A>G	XP_011541766.1:n.-13-2A>G
XM_011543467.3:c.-397-2A>G	XP_011541769.1:n.-397-2A>G
XM_017009559.2:c.-13-2A>G	XP_016865048.1:n.-13-2A>G
XM_017009560.2:c.-13-2A>G	XP_016865049.1:n.-13-2A>G
XM_017009561.2:c.-63-5464A>G	XP_016865050.1:n.-63-5464A>G
XM_017009563.2:c.-397-2A>G	XP_016865052.1:n.-397-2A>G
XR_001742105.2:n.608-2A>G
XR_001742107.2:n.608-2A>G
XR_001742108.2:n.154-2A>G
XR_002956163.1:n.608-2A>G
XR_241784.3:n.608-2A>G
XR_948273.3:n.154-2A>G
NM_001387113.2:c.-13-2A>G	NP_001374042.1:n.-13-2A>G
NR_170559.2:n.162-5464A>G
NR_170560.2:n.162-2A>G
NM_001387113.3:c.-13-2A>G	NP_001374042.1:n.-13-2A>G
NM_001395893.1:c.-397-2A>G	NP_001382822.1:n.-397-2A>G
NM_001395894.1:c.-13-2A>G	NP_001382823.1:n.-13-2A>G
NM_001395897.1:c.-13-2A>G	NP_001382826.1:n.-13-2A>G
NM_001395900.1:c.-63-5464A>G	NP_001382829.1:n.-63-5464A>G
NR_170559.3:n.162-5464A>G
NR_170560.3:n.162-2A>G