Canonical Allele Identifier: CA2122045160
Community Standard Title: NM_000270.4(PNP):c.575A= (p.Tyr192=)
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475175A= , CM000676.2:g.20475175A= GRCh38
NC_000014.8:g.20943334A= , CM000676.1:g.20943334A= GRCh37
NC_000014.7:g.20013174A= NCBI36
NG_009631.1:g.10793A= , LRG_91:g.10793A=

Transcript Alleles

HGVS Amino-acid Change
NM_000270.4:c.575A= MANE Select NP_000261.2:p.Tyr192=
ENST00000361505.10:c.575A= MANE Select ENSP00000354532.6:p.Tyr192=
NM_000270.3:c.575A= , LRG_91t1:c.575A= NP_000261.2:p.Tyr192=
ENST00000361505.9:c.575A= ENSP00000354532.5:p.Tyr192=
ENST00000553591.2:c.692A= ENSP00000452421.2:p.Tyr231=
ENST00000554056.5:n.883A=
ENST00000556293.6:n.2998A=
ENST00000556754.1:n.1792A=
ENST00000556754.2:n.3941A=
ENST00000557229.6:n.1004A=
ENST00000697613.1:c.575A= ENSP00000513359.1:p.Tyr192=
ENST00000697614.1:c.338A= ENSP00000513360.1:p.Tyr113=
ENST00000697615.1:n.1403A=