Canonical Allele Identifier: CA2103902

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218339887G>A , CM000664.2:g.218339887G>A	GRCh38
NC_000002.11:g.219204610G>A , CM000664.1:g.219204610G>A	GRCh37
NC_000002.10:g.218912854G>A	NCBI36
NG_017060.1:g.74496G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.341G>A (PNKD) MANE Select	NP_056303.3:p.Arg114His
ENST00000273077.9:c.341G>A (PNKD) MANE Select	ENSP00000273077.4:p.Arg114His
NM_015488.4:c.341G>A (PNKD)	NP_056303.3:p.Arg114His
NM_022572.4:c.269G>A (PNKD)	NP_072094.1:p.Arg90His
NR_125777.1:n.120+11273C>T (CATIP-AS2)
ENST00000258362.7:c.269G>A (PNKD)	ENSP00000258362.3:p.Arg90His
ENST00000273077.8:c.341G>A (PNKD)	ENSP00000273077.4:p.Arg114His
ENST00000436005.2:c.161G>A (PNKD)	ENSP00000414400.2:p.Arg54His
ENST00000436005.3:c.341G>A (PNKD)	ENSP00000414400.3:p.Arg114His
ENST00000684905.1:n.352G>A (PNKD)
ENST00000685415.1:c.458G>A (PNKD)	ENSP00000510415.1:p.Arg153His
ENST00000687736.1:c.341G>A (PNKD)	ENSP00000509627.1:p.Arg114His
ENST00000688179.1:c.341G>A (PNKD)	ENSP00000508635.1:p.Arg114His
ENST00000689098.1:n.258G>A (PNKD)
ENST00000689816.1:c.341G>A (PNKD)	ENSP00000508450.1:p.Arg114His
ENST00000690891.1:c.486G>A (PNKD)	ENSP00000509744.1:n.486G>A
ENST00000691220.1:c.237-2094G>A (PNKD)	ENSP00000509580.1:n.237-2094G>A
ENST00000691799.1:n.240-4921G>A (PNKD)
ENST00000692295.1:c.165-1647G>A (PNKD)	ENSP00000509392.1:n.165-1647G>A
ENST00000693423.1:c.165-4568G>A (PNKD)	ENSP00000508705.1:n.165-4568G>A
XM_017003771.1:c.341G>A (PNKD)	XP_016859260.1:p.Arg114His
XM_017003772.1:c.269G>A (PNKD)	XP_016859261.1:p.Arg90His