Canonical Allele Identifier: CA2103804

Gene: PNKD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218323269T>A , CM000664.2:g.218323269T>A	GRCh38
NC_000002.11:g.219187992T>A , CM000664.1:g.219187992T>A	GRCh37
NC_000002.10:g.218896236T>A	NCBI36
NG_017060.1:g.57878T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.237-16514T>A MANE Select	NP_056303.3:n.237-16514T>A
ENST00000273077.9:c.237-16514T>A MANE Select	ENSP00000273077.4:n.237-16514T>A
NM_015488.4:c.237-16514T>A	NP_056303.3:n.237-16514T>A
NM_022572.4:c.2T>A	NP_072094.1:p.Met1Lys
ENST00000258362.7:c.2T>A	ENSP00000258362.3:p.Met1Lys
ENST00000273077.8:c.237-16514T>A	ENSP00000273077.4:n.237-16514T>A
ENST00000436005.3:c.237-16514T>A	ENSP00000414400.3:n.237-16514T>A
ENST00000684905.1:n.248-16514T>A
ENST00000685415.1:c.354-16514T>A	ENSP00000510415.1:n.354-16514T>A
ENST00000687736.1:c.237-16514T>A	ENSP00000509627.1:n.237-16514T>A
ENST00000688179.1:c.237-16514T>A	ENSP00000508635.1:n.237-16514T>A
ENST00000689816.1:c.237-16514T>A	ENSP00000508450.1:n.237-16514T>A
ENST00000690891.1:c.237-5211T>A	ENSP00000509744.1:n.237-5211T>A
ENST00000691220.1:c.237-18712T>A	ENSP00000509580.1:n.237-18712T>A
ENST00000691799.1:n.240-21539T>A
ENST00000692295.1:c.2T>A	ENSP00000509392.1:p.Met1Lys
ENST00000693423.1:c.2T>A	ENSP00000508705.1:p.Met1Lys
XM_017003771.1:c.237-16514T>A	XP_016859260.1:n.237-16514T>A
XM_017003772.1:c.2T>A	XP_016859261.1:p.Met1Lys