Canonical Allele Identifier: CA10614180

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218345819C>T , CM000664.2:g.218345819C>T	GRCh38
NC_000002.11:g.219210542C>T , CM000664.1:g.219210542C>T	GRCh37
NC_000002.10:g.218918786C>T	NCBI36
NG_017060.1:g.80428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.*838C>T (PNKD) MANE Select	NP_056303.3:n.*838C>T
ENST00000273077.9:c.*838C>T (PNKD) MANE Select	ENSP00000273077.4:n.*838C>T
NM_015488.4:c.*838C>T (PNKD)	NP_056303.3:n.*838C>T
NM_022572.4:c.*838C>T (PNKD)	NP_072094.1:n.*838C>T
NR_125777.1:n.120+5341G>A (CATIP-AS2)
ENST00000258362.7:c.*838C>T (PNKD)	ENSP00000258362.3:n.*838C>T
ENST00000273077.8:c.*838C>T (PNKD)	ENSP00000273077.4:n.*838C>T
ENST00000436005.3:c.*838C>T (PNKD)	ENSP00000414400.3:n.*838C>T
ENST00000684905.1:n.2754C>T (PNKD)
ENST00000685415.1:c.*838C>T (PNKD)	ENSP00000510415.1:n.*838C>T
ENST00000687736.1:c.1816C>T (PNKD)	ENSP00000509627.1:n.1816C>T
ENST00000688179.1:c.*838C>T (PNKD)	ENSP00000508635.1:n.*838C>T
ENST00000689098.1:n.2660C>T (PNKD)
ENST00000689693.1:n.2793C>T (PNKD)
ENST00000689816.1:c.*838C>T (PNKD)	ENSP00000508450.1:n.*838C>T
ENST00000690891.1:c.2141C>T (PNKD)	ENSP00000509744.1:n.2141C>T
ENST00000691220.1:c.1615C>T (PNKD)	ENSP00000509580.1:n.1615C>T
ENST00000691799.1:n.1251C>T (PNKD)
ENST00000692295.1:c.1636C>T (PNKD)	ENSP00000509392.1:n.1636C>T
ENST00000693423.1:c.*1121C>T (PNKD)	ENSP00000508705.1:n.*1121C>T
ENST00000693556.1:n.1318C>T (PNKD)
XM_017003771.1:c.*838C>T (PNKD)	XP_016859260.1:n.*838C>T
XM_017003772.1:c.*838C>T (PNKD)	XP_016859261.1:n.*838C>T