Canonical Allele Identifier: CA2103303

Gene: PNKD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218272633C>T , CM000664.2:g.218272633C>T	GRCh38
NC_000002.11:g.219137356C>T , CM000664.1:g.219137356C>T	GRCh37
NC_000002.10:g.218845600C>T	NCBI36
NG_017060.1:g.7242C>T
NG_033036.1:g.2538G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.236+1084C>T MANE Select	NP_056303.3:n.236+1084C>T
ENST00000273077.9:c.236+1084C>T MANE Select	ENSP00000273077.4:n.236+1084C>T
NM_001077399.2:c.300C>T	NP_001070867.1:p.Asp100=
NM_001077399.3:c.300C>T	NP_001070867.1:p.Asp100=
NM_015488.4:c.236+1084C>T	NP_056303.3:n.236+1084C>T
ENST00000248451.7:c.300C>T	ENSP00000248451.3:p.Asp100=
ENST00000273077.8:c.236+1084C>T	ENSP00000273077.4:n.236+1084C>T
ENST00000436005.3:c.236+1084C>T	ENSP00000414400.3:n.236+1084C>T
ENST00000469689.1:n.1094C>T
ENST00000472650.1:n.170+1084C>T
ENST00000472650.2:n.261+1084C>T
ENST00000684905.1:n.247+1084C>T
ENST00000685415.1:c.300C>T	ENSP00000510415.1:p.Asp100=
ENST00000687736.1:c.236+1084C>T	ENSP00000509627.1:n.236+1084C>T
ENST00000688179.1:c.236+1084C>T	ENSP00000508635.1:n.236+1084C>T
ENST00000689816.1:c.236+1084C>T	ENSP00000508450.1:n.236+1084C>T
ENST00000690891.1:c.236+1084C>T	ENSP00000509744.1:n.236+1084C>T
ENST00000691220.1:c.236+1084C>T	ENSP00000509580.1:n.236+1084C>T
ENST00000691799.1:n.239+1084C>T
ENST00000692260.1:n.1335C>T
XM_017003771.1:c.236+1084C>T	XP_016859260.1:n.236+1084C>T