Canonical Allele Identifier: CA2122045113
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475093G= , CM000676.2:g.20475093G= GRCh38
NC_000014.8:g.20943252G= , CM000676.1:g.20943252G= GRCh37
NC_000014.7:g.20013092G= NCBI36
NG_009631.1:g.10711G= , LRG_91:g.10711G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.610G= ENSP00000452421.2:p.Ala204=
ENST00000556293.6:n.2916G=
ENST00000556754.2:n.3859G=
ENST00000557229.6:n.922G=
ENST00000697613.1:c.493G= ENSP00000513359.1:p.Ala165=
ENST00000697614.1:c.256G= ENSP00000513360.1:p.Ala86=
ENST00000697615.1:n.1321G=
ENST00000361505.10:c.493G= MANE Select ENSP00000354532.6:p.Ala165=
ENST00000361505.9:c.493G= ENSP00000354532.5:p.Ala165=
ENST00000553591.1:c.610G= ENSP00000452421.1:p.Ala204=
ENST00000554056.5:n.801G=
ENST00000556754.1:n.1710G=
ENST00000557229.5:n.922G=
NM_000270.3:c.493G= , LRG_91t1:c.493G= NP_000261.2:p.Ala165=
NM_000270.4:c.493G= MANE Select NP_000261.2:p.Ala165=