Canonical Allele Identifier: CA10612809

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218345488G>C , CM000664.2:g.218345488G>C	GRCh38
NC_000002.11:g.219210211G>C , CM000664.1:g.219210211G>C	GRCh37
NC_000002.10:g.218918455G>C	NCBI36
NG_017060.1:g.80097G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.*507G>C (PNKD) MANE Select	NP_056303.3:n.*507G>C
ENST00000273077.9:c.*507G>C (PNKD) MANE Select	ENSP00000273077.4:n.*507G>C
NM_015488.4:c.*507G>C (PNKD)	NP_056303.3:n.*507G>C
NM_022572.4:c.*507G>C (PNKD)	NP_072094.1:n.*507G>C
NR_125777.1:n.120+5672C>G (CATIP-AS2)
ENST00000258362.7:c.*507G>C (PNKD)	ENSP00000258362.3:n.*507G>C
ENST00000273077.8:c.*507G>C (PNKD)	ENSP00000273077.4:n.*507G>C
ENST00000436005.3:c.*507G>C (PNKD)	ENSP00000414400.3:n.*507G>C
ENST00000684905.1:n.2423G>C (PNKD)
ENST00000685415.1:c.*507G>C (PNKD)	ENSP00000510415.1:n.*507G>C
ENST00000687736.1:c.1485G>C (PNKD)	ENSP00000509627.1:n.1485G>C
ENST00000688179.1:c.*507G>C (PNKD)	ENSP00000508635.1:n.*507G>C
ENST00000689098.1:n.2329G>C (PNKD)
ENST00000689693.1:n.2462G>C (PNKD)
ENST00000689816.1:c.*507G>C (PNKD)	ENSP00000508450.1:n.*507G>C
ENST00000690891.1:c.1810G>C (PNKD)	ENSP00000509744.1:n.1810G>C
ENST00000691220.1:c.1284G>C (PNKD)	ENSP00000509580.1:n.1284G>C
ENST00000691799.1:n.920G>C (PNKD)
ENST00000692295.1:c.1305G>C (PNKD)	ENSP00000509392.1:n.1305G>C
ENST00000693423.1:c.*790G>C (PNKD)	ENSP00000508705.1:n.*790G>C
ENST00000693556.1:n.987G>C (PNKD)
XM_017003771.1:c.*507G>C (PNKD)	XP_016859260.1:n.*507G>C
XM_017003772.1:c.*507G>C (PNKD)	XP_016859261.1:n.*507G>C