Canonical Allele Identifier: CA2103888

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218339848G>A , CM000664.2:g.218339848G>A	GRCh38
NC_000002.11:g.219204571G>A , CM000664.1:g.219204571G>A	GRCh37
NC_000002.10:g.218912815G>A	NCBI36
NG_017060.1:g.74457G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.302G>A (PNKD) MANE Select	NP_056303.3:p.Arg101Gln
ENST00000273077.9:c.302G>A (PNKD) MANE Select	ENSP00000273077.4:p.Arg101Gln
NM_015488.4:c.302G>A (PNKD)	NP_056303.3:p.Arg101Gln
NM_022572.4:c.230G>A (PNKD)	NP_072094.1:p.Arg77Gln
NR_125777.1:n.120+11312C>T (CATIP-AS2)
ENST00000258362.7:c.230G>A (PNKD)	ENSP00000258362.3:p.Arg77Gln
ENST00000273077.8:c.302G>A (PNKD)	ENSP00000273077.4:p.Arg101Gln
ENST00000436005.2:c.122G>A (PNKD)	ENSP00000414400.2:p.Arg41Gln
ENST00000436005.3:c.302G>A (PNKD)	ENSP00000414400.3:p.Arg101Gln
ENST00000684905.1:n.313G>A (PNKD)
ENST00000685415.1:c.419G>A (PNKD)	ENSP00000510415.1:p.Arg140Gln
ENST00000687736.1:c.302G>A (PNKD)	ENSP00000509627.1:p.Arg101Gln
ENST00000688179.1:c.302G>A (PNKD)	ENSP00000508635.1:p.Arg101Gln
ENST00000689098.1:n.219G>A (PNKD)
ENST00000689816.1:c.302G>A (PNKD)	ENSP00000508450.1:p.Arg101Gln
ENST00000690891.1:c.447G>A (PNKD)	ENSP00000509744.1:n.447G>A
ENST00000691220.1:c.237-2133G>A (PNKD)	ENSP00000509580.1:n.237-2133G>A
ENST00000691799.1:n.240-4960G>A (PNKD)
ENST00000692295.1:c.165-1686G>A (PNKD)	ENSP00000509392.1:n.165-1686G>A
ENST00000693423.1:c.165-4607G>A (PNKD)	ENSP00000508705.1:n.165-4607G>A
XM_017003771.1:c.302G>A (PNKD)	XP_016859260.1:p.Arg101Gln
XM_017003772.1:c.230G>A (PNKD)	XP_016859261.1:p.Arg77Gln