Canonical Allele Identifier: CA2624009723

Gene: PNP

Linked Data

• gnomAD v4: 14-20472581-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472581A>C , CM000676.2:g.20472581A>C	GRCh38
NC_000014.8:g.20940740A>C , CM000676.1:g.20940740A>C	GRCh37
NC_000014.7:g.20010580A>C	NCBI36
NG_009631.1:g.8199A>C , LRG_91:g.8199A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.298+104A>C	ENSP00000452421.2:n.298+104A>C
ENST00000556293.6:n.404A>C
ENST00000556754.2:n.1347A>C
ENST00000557229.6:n.300+104A>C
ENST00000697613.1:c.181+104A>C	ENSP00000513359.1:n.181+104A>C
ENST00000697614.1:c.-57+104A>C	ENSP00000513360.1:n.-57+104A>C
ENST00000697615.1:n.699+104A>C
ENST00000361505.10:c.181+104A>C MANE Select	ENSP00000354532.6:n.181+104A>C
ENST00000361505.9:c.181+104A>C	ENSP00000354532.5:n.181+104A>C
ENST00000553418.5:c.181+104A>C	ENSP00000450663.1:n.181+104A>C
ENST00000553591.1:c.298+104A>C	ENSP00000452421.1:n.298+104A>C
ENST00000554056.5:n.292+104A>C
ENST00000554065.1:c.-57+104A>C	ENSP00000451108.1:n.-57+104A>C
ENST00000556293.5:n.404A>C
ENST00000557229.5:n.300+104A>C
NM_000270.3:c.181+104A>C , LRG_91t1:c.181+104A>C	NP_000261.2:n.181+104A>C
NM_000270.4:c.181+104A>C MANE Select	NP_000261.2:n.181+104A>C