Canonical Allele Identifier: CA2104161

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218344545G>A , CM000664.2:g.218344545G>A	GRCh38
NC_000002.11:g.219209268G>A , CM000664.1:g.219209268G>A	GRCh37
NC_000002.10:g.218917512G>A	NCBI36
NG_017060.1:g.79154G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.959G>A (PNKD) MANE Select	NP_056303.3:p.Arg320Gln
ENST00000273077.9:c.959G>A (PNKD) MANE Select	ENSP00000273077.4:p.Arg320Gln
NM_015488.4:c.959G>A (PNKD)	NP_056303.3:p.Arg320Gln
NM_022572.4:c.887G>A (PNKD)	NP_072094.1:p.Arg296Gln
NR_125777.1:n.120+6615C>T (CATIP-AS2)
ENST00000258362.7:c.887G>A (PNKD)	ENSP00000258362.3:p.Arg296Gln
ENST00000273077.8:c.959G>A (PNKD)	ENSP00000273077.4:p.Arg320Gln
ENST00000436005.2:c.779G>A (PNKD)	ENSP00000414400.2:p.Arg260Gln
ENST00000436005.3:c.950G>A (PNKD)	ENSP00000414400.3:p.Arg317Gln
ENST00000684905.1:n.1717G>A (PNKD)
ENST00000685415.1:c.1076G>A (PNKD)	ENSP00000510415.1:p.Arg359Gln
ENST00000687736.1:c.779G>A (PNKD)	ENSP00000509627.1:p.Arg260Gln
ENST00000688179.1:c.836G>A (PNKD)	ENSP00000508635.1:p.Arg279Gln
ENST00000689098.1:n.1623G>A (PNKD)
ENST00000689693.1:n.1756G>A (PNKD)
ENST00000689816.1:c.923G>A (PNKD)	ENSP00000508450.1:p.Arg308Gln
ENST00000690891.1:c.1104G>A (PNKD)	ENSP00000509744.1:n.1104G>A
ENST00000691220.1:c.578G>A (PNKD)	ENSP00000509580.1:p.Arg193Gln
ENST00000691799.1:n.240-263G>A (PNKD)
ENST00000692295.1:c.599G>A (PNKD)	ENSP00000509392.1:p.Arg200Gln
ENST00000693423.1:c.*84G>A (PNKD)	ENSP00000508705.1:n.*84G>A
ENST00000693556.1:n.281G>A (PNKD)
XM_017003771.1:c.872G>A (PNKD)	XP_016859260.1:p.Arg291Gln
XM_017003772.1:c.800G>A (PNKD)	XP_016859261.1:p.Arg267Gln