Canonical Allele Identifier: CA2838322528

Gene: PKDCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.42055419G>T , CM000664.2:g.42055419G>T	GRCh38
NC_000002.11:g.42282559G>T , CM000664.1:g.42282559G>T	GRCh37
NC_000002.10:g.42136063G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294964.6:c.1222+26G>T MANE Select	ENSP00000294964.5:n.1222+26G>T
ENST00000294964.5:c.1222+26G>T	ENSP00000294964.5:n.1222+26G>T
ENST00000401498.6:c.*534+26G>T	ENSP00000385220.2:n.*534+26G>T
ENST00000470578.1:n.280+26G>T
ENST00000475241.1:n.587+26G>T
ENST00000475868.1:n.513G>T
ENST00000480099.1:n.64+399G>T
ENST00000490302.1:n.198+26G>T
NM_138370.2:c.1222+26G>T	NP_612379.2:n.1222+26G>T
NM_138370.3:c.1222+26G>T MANE Select	NP_612379.2:n.1222+26G>T