Canonical Allele Identifier: CA2122045738
Community Standard Title: NM_000270.4(PNP):c.701G= (p.Arg234=)
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20476432G= , CM000676.2:g.20476432G= GRCh38
NC_000014.8:g.20944591G= , CM000676.1:g.20944591G= GRCh37
NC_000014.7:g.20014431G= NCBI36
NG_009631.1:g.12050G= , LRG_91:g.12050G=

Transcript Alleles

HGVS Amino-acid Change
NM_000270.4:c.701G= MANE Select NP_000261.2:p.Arg234=
ENST00000361505.10:c.701G= MANE Select ENSP00000354532.6:p.Arg234=
NM_000270.3:c.701G= , LRG_91t1:c.701G= NP_000261.2:p.Arg234=
ENST00000361505.9:c.701G= ENSP00000354532.5:p.Arg234=
ENST00000553591.2:c.818G= ENSP00000452421.2:p.Arg273=
ENST00000554056.5:n.1009G=
ENST00000556293.6:n.3124G=
ENST00000556754.1:n.1918G=
ENST00000556754.2:n.4067G=
ENST00000557229.6:n.1130G=
ENST00000697613.1:c.701G= ENSP00000513359.1:p.Arg234=
ENST00000697614.1:c.464G= ENSP00000513360.1:p.Arg155=
ENST00000697615.1:n.1529G=