Canonical Allele Identifier: CA2104157

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218344525G>A , CM000664.2:g.218344525G>A	GRCh38
NC_000002.11:g.219209248G>A , CM000664.1:g.219209248G>A	GRCh37
NC_000002.10:g.218917492G>A	NCBI36
NG_017060.1:g.79134G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.939G>A (PNKD) MANE Select	NP_056303.3:p.Arg313=
ENST00000273077.9:c.939G>A (PNKD) MANE Select	ENSP00000273077.4:p.Arg313=
NM_015488.4:c.939G>A (PNKD)	NP_056303.3:p.Arg313=
NM_022572.4:c.867G>A (PNKD)	NP_072094.1:p.Arg289=
NR_125777.1:n.120+6635C>T (CATIP-AS2)
ENST00000258362.7:c.867G>A (PNKD)	ENSP00000258362.3:p.Arg289=
ENST00000273077.8:c.939G>A (PNKD)	ENSP00000273077.4:p.Arg313=
ENST00000436005.2:c.759G>A (PNKD)	ENSP00000414400.2:p.Arg253=
ENST00000436005.3:c.930G>A (PNKD)	ENSP00000414400.3:p.Arg310=
ENST00000684905.1:n.1697G>A (PNKD)
ENST00000685415.1:c.1056G>A (PNKD)	ENSP00000510415.1:p.Arg352=
ENST00000687736.1:c.759G>A (PNKD)	ENSP00000509627.1:p.Arg253=
ENST00000688179.1:c.816G>A (PNKD)	ENSP00000508635.1:p.Arg272=
ENST00000689098.1:n.1603G>A (PNKD)
ENST00000689693.1:n.1736G>A (PNKD)
ENST00000689816.1:c.903G>A (PNKD)	ENSP00000508450.1:p.Arg301=
ENST00000690891.1:c.1084G>A (PNKD)	ENSP00000509744.1:n.1084G>A
ENST00000691220.1:c.558G>A (PNKD)	ENSP00000509580.1:p.Arg186=
ENST00000691799.1:n.240-283G>A (PNKD)
ENST00000692295.1:c.579G>A (PNKD)	ENSP00000509392.1:p.Arg193=
ENST00000693423.1:c.*64G>A (PNKD)	ENSP00000508705.1:n.*64G>A
ENST00000693556.1:n.261G>A (PNKD)
XM_017003771.1:c.852G>A (PNKD)	XP_016859260.1:p.Arg284=
XM_017003772.1:c.780G>A (PNKD)	XP_016859261.1:p.Arg260=