Canonical Allele Identifier: CA2104111

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218343503G>A , CM000664.2:g.218343503G>A	GRCh38
NC_000002.11:g.219208226G>A , CM000664.1:g.219208226G>A	GRCh37
NC_000002.10:g.218916470G>A	NCBI36
NG_017060.1:g.78112G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.785G>A (PNKD) MANE Select	NP_056303.3:p.Arg262Gln
ENST00000273077.9:c.785G>A (PNKD) MANE Select	ENSP00000273077.4:p.Arg262Gln
NM_015488.4:c.785G>A (PNKD)	NP_056303.3:p.Arg262Gln
NM_022572.4:c.713G>A (PNKD)	NP_072094.1:p.Arg238Gln
NR_125777.1:n.120+7657C>T (CATIP-AS2)
ENST00000258362.7:c.713G>A (PNKD)	ENSP00000258362.3:p.Arg238Gln
ENST00000273077.8:c.785G>A (PNKD)	ENSP00000273077.4:p.Arg262Gln
ENST00000436005.2:c.605G>A (PNKD)	ENSP00000414400.2:p.Arg202Gln
ENST00000436005.3:c.776G>A (PNKD)	ENSP00000414400.3:p.Arg259Gln
ENST00000684905.1:n.1543G>A (PNKD)
ENST00000685415.1:c.902G>A (PNKD)	ENSP00000510415.1:p.Arg301Gln
ENST00000687736.1:c.689-952G>A (PNKD)	ENSP00000509627.1:n.689-952G>A
ENST00000688179.1:c.782-988G>A (PNKD)	ENSP00000508635.1:n.782-988G>A
ENST00000689098.1:n.1449G>A (PNKD)
ENST00000689693.1:n.1582G>A (PNKD)
ENST00000689816.1:c.785G>A (PNKD)	ENSP00000508450.1:p.Arg262Gln
ENST00000690891.1:c.930G>A (PNKD)	ENSP00000509744.1:n.930G>A
ENST00000691220.1:c.404G>A (PNKD)	ENSP00000509580.1:p.Arg135Gln
ENST00000691799.1:n.240-1305G>A (PNKD)
ENST00000692295.1:c.425G>A (PNKD)	ENSP00000509392.1:p.Arg142Gln
ENST00000693423.1:c.165-952G>A (PNKD)	ENSP00000508705.1:n.165-952G>A
ENST00000693556.1:n.191-952G>A (PNKD)
XM_017003771.1:c.782-952G>A (PNKD)	XP_016859260.1:n.782-952G>A
XM_017003772.1:c.710-952G>A (PNKD)	XP_016859261.1:n.710-952G>A