Canonical Allele Identifier: CA10612805

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218345292G>T , CM000664.2:g.218345292G>T	GRCh38
NC_000002.11:g.219210015G>T , CM000664.1:g.219210015G>T	GRCh37
NC_000002.10:g.218918259G>T	NCBI36
NG_017060.1:g.79901G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.*311G>T (PNKD) MANE Select	NP_056303.3:n.*311G>T
ENST00000273077.9:c.*311G>T (PNKD) MANE Select	ENSP00000273077.4:n.*311G>T
NM_015488.4:c.*311G>T (PNKD)	NP_056303.3:n.*311G>T
NM_022572.4:c.*311G>T (PNKD)	NP_072094.1:n.*311G>T
NR_125777.1:n.120+5868C>A (CATIP-AS2)
ENST00000258362.7:c.*311G>T (PNKD)	ENSP00000258362.3:n.*311G>T
ENST00000273077.8:c.*311G>T (PNKD)	ENSP00000273077.4:n.*311G>T
ENST00000436005.3:c.*311G>T (PNKD)	ENSP00000414400.3:n.*311G>T
ENST00000684905.1:n.2227G>T (PNKD)
ENST00000685415.1:c.*311G>T (PNKD)	ENSP00000510415.1:n.*311G>T
ENST00000687736.1:c.1289G>T (PNKD)	ENSP00000509627.1:n.1289G>T
ENST00000688179.1:c.*311G>T (PNKD)	ENSP00000508635.1:n.*311G>T
ENST00000689098.1:n.2133G>T (PNKD)
ENST00000689693.1:n.2266G>T (PNKD)
ENST00000689816.1:c.*311G>T (PNKD)	ENSP00000508450.1:n.*311G>T
ENST00000690891.1:c.1614G>T (PNKD)	ENSP00000509744.1:n.1614G>T
ENST00000691220.1:c.1088G>T (PNKD)	ENSP00000509580.1:n.1088G>T
ENST00000691799.1:n.724G>T (PNKD)
ENST00000692295.1:c.1109G>T (PNKD)	ENSP00000509392.1:n.1109G>T
ENST00000693423.1:c.*594G>T (PNKD)	ENSP00000508705.1:n.*594G>T
ENST00000693556.1:n.791G>T (PNKD)
XM_017003771.1:c.*311G>T (PNKD)	XP_016859260.1:n.*311G>T
XM_017003772.1:c.*311G>T (PNKD)	XP_016859261.1:n.*311G>T