Canonical Allele Identifier: CA350542534

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218344464A>G , CM000664.2:g.218344464A>G	GRCh38
NC_000002.11:g.219209187A>G , CM000664.1:g.219209187A>G	GRCh37
NC_000002.10:g.218917431A>G	NCBI36
NG_017060.1:g.79073A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.878A>G (PNKD) MANE Select	NP_056303.3:p.Tyr293Cys
ENST00000273077.9:c.878A>G (PNKD) MANE Select	ENSP00000273077.4:p.Tyr293Cys
NM_015488.4:c.878A>G (PNKD)	NP_056303.3:p.Tyr293Cys
NM_022572.4:c.806A>G (PNKD)	NP_072094.1:p.Tyr269Cys
NR_125777.1:n.120+6696T>C (CATIP-AS2)
ENST00000258362.7:c.806A>G (PNKD)	ENSP00000258362.3:p.Tyr269Cys
ENST00000273077.8:c.878A>G (PNKD)	ENSP00000273077.4:p.Tyr293Cys
ENST00000436005.2:c.698A>G (PNKD)	ENSP00000414400.2:p.Tyr233Cys
ENST00000436005.3:c.869A>G (PNKD)	ENSP00000414400.3:p.Tyr290Cys
ENST00000684905.1:n.1636A>G (PNKD)
ENST00000685415.1:c.995A>G (PNKD)	ENSP00000510415.1:p.Tyr332Cys
ENST00000687736.1:c.698A>G (PNKD)	ENSP00000509627.1:p.Tyr233Cys
ENST00000688179.1:c.782-27A>G (PNKD)	ENSP00000508635.1:n.782-27A>G
ENST00000689098.1:n.1542A>G (PNKD)
ENST00000689693.1:n.1675A>G (PNKD)
ENST00000689816.1:c.869-27A>G (PNKD)	ENSP00000508450.1:n.869-27A>G
ENST00000690891.1:c.1023A>G (PNKD)	ENSP00000509744.1:n.1023A>G
ENST00000691220.1:c.497A>G (PNKD)	ENSP00000509580.1:p.Tyr166Cys
ENST00000691799.1:n.240-344A>G (PNKD)
ENST00000692295.1:c.518A>G (PNKD)	ENSP00000509392.1:p.Tyr173Cys
ENST00000693423.1:c.*3A>G (PNKD)	ENSP00000508705.1:n.*3A>G
ENST00000693556.1:n.200A>G (PNKD)
XM_017003771.1:c.791A>G (PNKD)	XP_016859260.1:p.Tyr264Cys
XM_017003772.1:c.719A>G (PNKD)	XP_016859261.1:p.Tyr240Cys