Canonical Allele Identifier: CA2104152

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218344505G>A , CM000664.2:g.218344505G>A	GRCh38
NC_000002.11:g.219209228G>A , CM000664.1:g.219209228G>A	GRCh37
NC_000002.10:g.218917472G>A	NCBI36
NG_017060.1:g.79114G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.919G>A (PNKD) MANE Select	NP_056303.3:p.Glu307Lys
ENST00000273077.9:c.919G>A (PNKD) MANE Select	ENSP00000273077.4:p.Glu307Lys
NM_015488.4:c.919G>A (PNKD)	NP_056303.3:p.Glu307Lys
NM_022572.4:c.847G>A (PNKD)	NP_072094.1:p.Glu283Lys
NR_125777.1:n.120+6655C>T (CATIP-AS2)
ENST00000258362.7:c.847G>A (PNKD)	ENSP00000258362.3:p.Glu283Lys
ENST00000273077.8:c.919G>A (PNKD)	ENSP00000273077.4:p.Glu307Lys
ENST00000436005.2:c.739G>A (PNKD)	ENSP00000414400.2:p.Glu247Lys
ENST00000436005.3:c.910G>A (PNKD)	ENSP00000414400.3:p.Glu304Lys
ENST00000684905.1:n.1677G>A (PNKD)
ENST00000685415.1:c.1036G>A (PNKD)	ENSP00000510415.1:p.Glu346Lys
ENST00000687736.1:c.739G>A (PNKD)	ENSP00000509627.1:p.Glu247Lys
ENST00000688179.1:c.796G>A (PNKD)	ENSP00000508635.1:p.Glu266Lys
ENST00000689098.1:n.1583G>A (PNKD)
ENST00000689693.1:n.1716G>A (PNKD)
ENST00000689816.1:c.883G>A (PNKD)	ENSP00000508450.1:p.Glu295Lys
ENST00000690891.1:c.1064G>A (PNKD)	ENSP00000509744.1:n.1064G>A
ENST00000691220.1:c.538G>A (PNKD)	ENSP00000509580.1:p.Glu180Lys
ENST00000691799.1:n.240-303G>A (PNKD)
ENST00000692295.1:c.559G>A (PNKD)	ENSP00000509392.1:p.Glu187Lys
ENST00000693423.1:c.*44G>A (PNKD)	ENSP00000508705.1:n.*44G>A
ENST00000693556.1:n.241G>A (PNKD)
XM_017003771.1:c.832G>A (PNKD)	XP_016859260.1:p.Glu278Lys
XM_017003772.1:c.760G>A (PNKD)	XP_016859261.1:p.Glu254Lys