Canonical Allele Identifier: CA10612438

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218345588T>C , CM000664.2:g.218345588T>C	GRCh38
NC_000002.11:g.219210311T>C , CM000664.1:g.219210311T>C	GRCh37
NC_000002.10:g.218918555T>C	NCBI36
NG_017060.1:g.80197T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.*607T>C (PNKD) MANE Select	NP_056303.3:n.*607T>C
ENST00000273077.9:c.*607T>C (PNKD) MANE Select	ENSP00000273077.4:n.*607T>C
NM_015488.4:c.*607T>C (PNKD)	NP_056303.3:n.*607T>C
NM_022572.4:c.*607T>C (PNKD)	NP_072094.1:n.*607T>C
NR_125777.1:n.120+5572A>G (CATIP-AS2)
ENST00000258362.7:c.*607T>C (PNKD)	ENSP00000258362.3:n.*607T>C
ENST00000273077.8:c.*607T>C (PNKD)	ENSP00000273077.4:n.*607T>C
ENST00000436005.3:c.*607T>C (PNKD)	ENSP00000414400.3:n.*607T>C
ENST00000684905.1:n.2523T>C (PNKD)
ENST00000685415.1:c.*607T>C (PNKD)	ENSP00000510415.1:n.*607T>C
ENST00000687736.1:c.1585T>C (PNKD)	ENSP00000509627.1:n.1585T>C
ENST00000688179.1:c.*607T>C (PNKD)	ENSP00000508635.1:n.*607T>C
ENST00000689098.1:n.2429T>C (PNKD)
ENST00000689693.1:n.2562T>C (PNKD)
ENST00000689816.1:c.*607T>C (PNKD)	ENSP00000508450.1:n.*607T>C
ENST00000690891.1:c.1910T>C (PNKD)	ENSP00000509744.1:n.1910T>C
ENST00000691220.1:c.1384T>C (PNKD)	ENSP00000509580.1:n.1384T>C
ENST00000691799.1:n.1020T>C (PNKD)
ENST00000692295.1:c.1405T>C (PNKD)	ENSP00000509392.1:n.1405T>C
ENST00000693423.1:c.*890T>C (PNKD)	ENSP00000508705.1:n.*890T>C
ENST00000693556.1:n.1087T>C (PNKD)
XM_017003771.1:c.*607T>C (PNKD)	XP_016859260.1:n.*607T>C
XM_017003772.1:c.*607T>C (PNKD)	XP_016859261.1:n.*607T>C