Canonical Allele Identifier: CA350538231

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218339864A>T , CM000664.2:g.218339864A>T	GRCh38
NC_000002.11:g.219204587A>T , CM000664.1:g.219204587A>T	GRCh37
NC_000002.10:g.218912831A>T	NCBI36
NG_017060.1:g.74473A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.318A>T (PNKD) MANE Select	NP_056303.3:p.Lys106Asn
ENST00000273077.9:c.318A>T (PNKD) MANE Select	ENSP00000273077.4:p.Lys106Asn
NM_015488.4:c.318A>T (PNKD)	NP_056303.3:p.Lys106Asn
NM_022572.4:c.246A>T (PNKD)	NP_072094.1:p.Lys82Asn
NR_125777.1:n.120+11296T>A (CATIP-AS2)
ENST00000258362.7:c.246A>T (PNKD)	ENSP00000258362.3:p.Lys82Asn
ENST00000273077.8:c.318A>T (PNKD)	ENSP00000273077.4:p.Lys106Asn
ENST00000436005.2:c.138A>T (PNKD)	ENSP00000414400.2:p.Lys46Asn
ENST00000436005.3:c.318A>T (PNKD)	ENSP00000414400.3:p.Lys106Asn
ENST00000684905.1:n.329A>T (PNKD)
ENST00000685415.1:c.435A>T (PNKD)	ENSP00000510415.1:p.Lys145Asn
ENST00000687736.1:c.318A>T (PNKD)	ENSP00000509627.1:p.Lys106Asn
ENST00000688179.1:c.318A>T (PNKD)	ENSP00000508635.1:p.Lys106Asn
ENST00000689098.1:n.235A>T (PNKD)
ENST00000689816.1:c.318A>T (PNKD)	ENSP00000508450.1:p.Lys106Asn
ENST00000690891.1:c.463A>T (PNKD)	ENSP00000509744.1:n.463A>T
ENST00000691220.1:c.237-2117A>T (PNKD)	ENSP00000509580.1:n.237-2117A>T
ENST00000691799.1:n.240-4944A>T (PNKD)
ENST00000692295.1:c.165-1670A>T (PNKD)	ENSP00000509392.1:n.165-1670A>T
ENST00000693423.1:c.165-4591A>T (PNKD)	ENSP00000508705.1:n.165-4591A>T
XM_017003771.1:c.318A>T (PNKD)	XP_016859260.1:p.Lys106Asn
XM_017003772.1:c.246A>T (PNKD)	XP_016859261.1:p.Lys82Asn