Canonical Allele Identifier: CA350540274

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218341537C>G , CM000664.2:g.218341537C>G	GRCh38
NC_000002.11:g.219206260C>G , CM000664.1:g.219206260C>G	GRCh37
NC_000002.10:g.218914504C>G	NCBI36
NG_017060.1:g.76146C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.528C>G (PNKD) MANE Select	NP_056303.3:p.Asp176Glu
ENST00000273077.9:c.528C>G (PNKD) MANE Select	ENSP00000273077.4:p.Asp176Glu
NM_015488.4:c.528C>G (PNKD)	NP_056303.3:p.Asp176Glu
NM_022572.4:c.456C>G (PNKD)	NP_072094.1:p.Asp152Glu
NR_125777.1:n.120+9623G>C (CATIP-AS2)
ENST00000258362.7:c.456C>G (PNKD)	ENSP00000258362.3:p.Asp152Glu
ENST00000273077.8:c.528C>G (PNKD)	ENSP00000273077.4:p.Asp176Glu
ENST00000436005.2:c.348C>G (PNKD)	ENSP00000414400.2:p.Asp116Glu
ENST00000436005.3:c.525-6C>G (PNKD)	ENSP00000414400.3:n.525-6C>G
ENST00000684905.1:n.1286C>G (PNKD)
ENST00000685415.1:c.645C>G (PNKD)	ENSP00000510415.1:p.Asp215Glu
ENST00000687736.1:c.525-444C>G (PNKD)	ENSP00000509627.1:n.525-444C>G
ENST00000688179.1:c.528C>G (PNKD)	ENSP00000508635.1:p.Asp176Glu
ENST00000689098.1:n.1192C>G (PNKD)
ENST00000689693.1:n.1325C>G (PNKD)
ENST00000689816.1:c.528C>G (PNKD)	ENSP00000508450.1:p.Asp176Glu
ENST00000690891.1:c.673C>G (PNKD)	ENSP00000509744.1:n.673C>G
ENST00000691220.1:c.237-444C>G (PNKD)	ENSP00000509580.1:n.237-444C>G
ENST00000691799.1:n.240-3271C>G (PNKD)
ENST00000692295.1:c.168C>G (PNKD)	ENSP00000509392.1:p.Asp56Glu
ENST00000693423.1:c.165-2918C>G (PNKD)	ENSP00000508705.1:n.165-2918C>G
XM_017003771.1:c.528C>G (PNKD)	XP_016859260.1:p.Asp176Glu
XM_017003772.1:c.456C>G (PNKD)	XP_016859261.1:p.Asp152Glu