Canonical Allele Identifier: CA1328680929

Gene: PNKD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270522G= , CM000664.2:g.218270522G=	GRCh38
NC_000002.11:g.219135245G= , CM000664.1:g.219135245G=	GRCh37
NC_000002.10:g.218843489G=	NCBI36
NG_017060.1:g.5131G=
NG_033036.1:g.4649C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.-14G=	ENSP00000414400.3:n.-14G=
ENST00000472650.2:n.12G=
ENST00000685415.1:c.-14G=	ENSP00000510415.1:n.-14G=
ENST00000688179.1:c.-14G=	ENSP00000508635.1:n.-14G=
ENST00000689816.1:c.-14G=	ENSP00000508450.1:n.-14G=
ENST00000691799.1:n.70+802G=
ENST00000692260.1:n.2G=
ENST00000273077.9:c.-14G= MANE Select	ENSP00000273077.4:n.-14G=
ENST00000248451.7:c.-14G=	ENSP00000248451.3:n.-14G=
ENST00000273077.8:c.-14G=	ENSP00000273077.4:n.-14G=
ENST00000469689.1:n.3G=
NM_001077399.2:c.-14G=	NP_001070867.1:n.-14G=
NM_015488.4:c.-14G=	NP_056303.3:n.-14G=
XM_017003771.1:c.-14G=	XP_016859260.1:n.-14G=
NM_015488.5:c.-14G= MANE Select	NP_056303.3:n.-14G=
NM_001077399.3:c.-14G=	NP_001070867.1:n.-14G=