Canonical Allele Identifier: CA350545090

Gene: PNKD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218272630G>C , CM000664.2:g.218272630G>C	GRCh38
NC_000002.11:g.219137353G>C , CM000664.1:g.219137353G>C	GRCh37
NC_000002.10:g.218845597G>C	NCBI36
NG_017060.1:g.7239G>C
NG_033036.1:g.2541C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.236+1081G>C MANE Select	NP_056303.3:n.236+1081G>C
ENST00000273077.9:c.236+1081G>C MANE Select	ENSP00000273077.4:n.236+1081G>C
NM_001077399.2:c.297G>C	NP_001070867.1:p.Lys99Asn
NM_001077399.3:c.297G>C	NP_001070867.1:p.Lys99Asn
NM_015488.4:c.236+1081G>C	NP_056303.3:n.236+1081G>C
ENST00000248451.7:c.297G>C	ENSP00000248451.3:p.Lys99Asn
ENST00000273077.8:c.236+1081G>C	ENSP00000273077.4:n.236+1081G>C
ENST00000436005.3:c.236+1081G>C	ENSP00000414400.3:n.236+1081G>C
ENST00000469689.1:n.1091G>C
ENST00000472650.1:n.170+1081G>C
ENST00000472650.2:n.261+1081G>C
ENST00000684905.1:n.247+1081G>C
ENST00000685415.1:c.297G>C	ENSP00000510415.1:p.Lys99Asn
ENST00000687736.1:c.236+1081G>C	ENSP00000509627.1:n.236+1081G>C
ENST00000688179.1:c.236+1081G>C	ENSP00000508635.1:n.236+1081G>C
ENST00000689816.1:c.236+1081G>C	ENSP00000508450.1:n.236+1081G>C
ENST00000690891.1:c.236+1081G>C	ENSP00000509744.1:n.236+1081G>C
ENST00000691220.1:c.236+1081G>C	ENSP00000509580.1:n.236+1081G>C
ENST00000691799.1:n.239+1081G>C
ENST00000692260.1:n.1332G>C
XM_017003771.1:c.236+1081G>C	XP_016859260.1:n.236+1081G>C