Canonical Allele Identifier: CA389145729

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943349G>A (hg19) ; chr14:g.20475190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475190G>A , CM000676.2:g.20475190G>A	GRCh38
NC_000014.8:g.20943349G>A , CM000676.1:g.20943349G>A	GRCh37
NC_000014.7:g.20013189G>A	NCBI36
NG_009631.1:g.10808G>A , LRG_91:g.10808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.707G>A	ENSP00000452421.2:p.Gly236Asp
ENST00000556293.6:n.3013G>A
ENST00000556754.2:n.3956G>A
ENST00000557229.6:n.1019G>A
ENST00000697613.1:c.590G>A	ENSP00000513359.1:p.Gly197Asp
ENST00000697614.1:c.353G>A	ENSP00000513360.1:p.Gly118Asp
ENST00000697615.1:n.1418G>A
ENST00000361505.10:c.590G>A MANE Select	ENSP00000354532.6:p.Gly197Asp
ENST00000361505.9:c.590G>A	ENSP00000354532.5:p.Gly197Asp
ENST00000554056.5:n.898G>A
ENST00000556754.1:n.1807G>A
NM_000270.3:c.590G>A , LRG_91t1:c.590G>A	NP_000261.2:p.Gly197Asp
NM_000270.4:c.590G>A MANE Select	NP_000261.2:p.Gly197Asp