Canonical Allele Identifier: CA2663093546

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270524-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270524T>C , CM000664.2:g.218270524T>C	GRCh38
NC_000002.11:g.219135247T>C , CM000664.1:g.219135247T>C	GRCh37
NC_000002.10:g.218843491T>C	NCBI36
NG_017060.1:g.5133T>C
NG_033036.1:g.4647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.-12T>C	ENSP00000414400.3:n.-12T>C
ENST00000472650.2:n.14T>C
ENST00000685415.1:c.-12T>C	ENSP00000510415.1:n.-12T>C
ENST00000688179.1:c.-12T>C	ENSP00000508635.1:n.-12T>C
ENST00000689816.1:c.-12T>C	ENSP00000508450.1:n.-12T>C
ENST00000691799.1:n.70+804T>C
ENST00000692260.1:n.4T>C
ENST00000273077.9:c.-12T>C MANE Select	ENSP00000273077.4:n.-12T>C
ENST00000248451.7:c.-12T>C	ENSP00000248451.3:n.-12T>C
ENST00000273077.8:c.-12T>C	ENSP00000273077.4:n.-12T>C
ENST00000469689.1:n.5T>C
NM_001077399.2:c.-12T>C	NP_001070867.1:n.-12T>C
NM_015488.4:c.-12T>C	NP_056303.3:n.-12T>C
XM_017003771.1:c.-12T>C	XP_016859260.1:n.-12T>C
NM_015488.5:c.-12T>C MANE Select	NP_056303.3:n.-12T>C
NM_001077399.3:c.-12T>C	NP_001070867.1:n.-12T>C