Canonical Allele Identifier: CA704019441

Gene: PNP

Linked Data

• dbSNP Id: rs1282323562
• gnomAD v4: 14-20472624-G-A
• MyVariant Identifiers: chr14:g.20940783G>A (hg19) ; chr14:g.20472624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472624G>A , CM000676.2:g.20472624G>A	GRCh38
NC_000014.8:g.20940783G>A , CM000676.1:g.20940783G>A	GRCh37
NC_000014.7:g.20010623G>A	NCBI36
NG_009631.1:g.8242G>A , LRG_91:g.8242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+147G>A	ENSP00000452421.2:n.298+147G>A
ENST00000556293.6:n.447G>A
ENST00000556754.2:n.1390G>A
ENST00000557229.6:n.300+147G>A
ENST00000697613.1:c.181+147G>A	ENSP00000513359.1:n.181+147G>A
ENST00000697614.1:c.-57+147G>A	ENSP00000513360.1:n.-57+147G>A
ENST00000697615.1:n.699+147G>A
ENST00000361505.10:c.181+147G>A MANE Select	ENSP00000354532.6:n.181+147G>A
ENST00000361505.9:c.181+147G>A	ENSP00000354532.5:n.181+147G>A
ENST00000553418.5:c.181+147G>A	ENSP00000450663.1:n.181+147G>A
ENST00000553591.1:c.298+147G>A	ENSP00000452421.1:n.298+147G>A
ENST00000554056.5:n.292+147G>A
ENST00000554065.1:c.-57+147G>A	ENSP00000451108.1:n.-57+147G>A
ENST00000556293.5:n.447G>A
ENST00000557229.5:n.300+147G>A
NM_000270.3:c.181+147G>A , LRG_91t1:c.181+147G>A	NP_000261.2:n.181+147G>A
NM_000270.4:c.181+147G>A MANE Select	NP_000261.2:n.181+147G>A