Canonical Allele Identifier: CA7082153

Gene: PNP

Linked Data

• dbSNP Id: rs767426433
• ExAC: 14:20943253 C / A
• gnomAD v2: 14-20943253-C-A
• gnomAD v4: 14-20475094-C-A
• MyVariant Identifiers: chr14:g.20943253C>A (hg19) ; chr14:g.20475094C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475094C>A , CM000676.2:g.20475094C>A	GRCh38
NC_000014.8:g.20943253C>A , CM000676.1:g.20943253C>A	GRCh37
NC_000014.7:g.20013093C>A	NCBI36
NG_009631.1:g.10712C>A , LRG_91:g.10712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.611C>A	ENSP00000452421.2:p.Ala204Asp
ENST00000556293.6:n.2917C>A
ENST00000556754.2:n.3860C>A
ENST00000557229.6:n.923C>A
ENST00000697613.1:c.494C>A	ENSP00000513359.1:p.Ala165Asp
ENST00000697614.1:c.257C>A	ENSP00000513360.1:p.Ala86Asp
ENST00000697615.1:n.1322C>A
ENST00000361505.10:c.494C>A MANE Select	ENSP00000354532.6:p.Ala165Asp
ENST00000361505.9:c.494C>A	ENSP00000354532.5:p.Ala165Asp
ENST00000553591.1:c.611C>A	ENSP00000452421.1:p.Ala204Asp
ENST00000554056.5:n.802C>A
ENST00000556754.1:n.1711C>A
ENST00000557229.5:n.923C>A
NM_000270.3:c.494C>A , LRG_91t1:c.494C>A	NP_000261.2:p.Ala165Asp
NM_000270.4:c.494C>A MANE Select	NP_000261.2:p.Ala165Asp