Canonical Allele Identifier: CA283352316

Gene: PDF COG8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69330518G>C , CM000678.2:g.69330518G>C	GRCh38
NC_000016.9:g.69364421G>C , CM000678.1:g.69364421G>C	GRCh37
NC_000016.8:g.67921922G>C	NCBI36
NG_009013.1:g.14106C>G
NG_033043.1:g.5078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288022.2:c.53C>G (PDF) MANE Select	ENSP00000288022.1:p.Pro18Arg
ENST00000306875.10:c.*26+295C>G (COG8) MANE Select	ENSP00000305459.6:n.*26+295C>G
ENST00000288022.1:c.53C>G (PDF)	ENSP00000288022.1:p.Pro18Arg
ENST00000306875.8:c.*26+295C>G (COG8)	ENSP00000305459.4:n.*26+295C>G
ENST00000562595.5:c.549+4808C>G (COG8)
ENST00000562949.1:c.352-1339C>G	ENSP00000457718.1:n.352-1339C>G
NM_022341.1:c.53C>G (PDF)	NP_071736.1:p.Pro18Arg
NM_032382.4:c.*26+295C>G (COG8)	NP_115758.3:n.*26+295C>G
NM_022341.2:c.53C>G (PDF) MANE Select	NP_071736.1:p.Pro18Arg
NM_032382.5:c.*26+295C>G (COG8) MANE Select	NP_115758.3:n.*26+295C>G
NM_001379261.1:c.*26+295C>G (COG8)	NP_001366190.1:n.*26+295C>G
NM_001379262.1:c.1759+401C>G (COG8)	NP_001366191.1:n.1759+401C>G
NM_001379263.1:c.*26+295C>G (COG8)	NP_001366192.1:n.*26+295C>G
NM_001379264.1:c.*23+298C>G (COG8)	NP_001366193.1:n.*23+298C>G
NM_001379265.1:c.1583-1339C>G (COG8)	NP_001366194.1:n.1583-1339C>G
NM_001379266.1:c.1414-1339C>G (COG8)	NP_001366195.1:n.1414-1339C>G