Canonical Allele Identifier: CA389146119
Community Standard Title: NM_000270.4(PNP):c.769C>G (p.His257Asp)
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20476500C>G , CM000676.2:g.20476500C>G GRCh38
NC_000014.8:g.20944659C>G , CM000676.1:g.20944659C>G GRCh37
NC_000014.7:g.20014499C>G NCBI36
NG_009631.1:g.12118C>G , LRG_91:g.12118C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000270.4:c.769C>G MANE Select NP_000261.2:p.His257Asp
ENST00000361505.10:c.769C>G MANE Select ENSP00000354532.6:p.His257Asp
NM_000270.3:c.769C>G , LRG_91t1:c.769C>G NP_000261.2:p.His257Asp
ENST00000361505.9:c.769C>G ENSP00000354532.5:p.His257Asp
ENST00000553591.2:c.886C>G ENSP00000452421.2:p.His296Asp
ENST00000554056.5:n.1077C>G
ENST00000556293.6:n.3192C>G
ENST00000556754.1:n.1986C>G
ENST00000556754.2:n.4135C>G
ENST00000557229.6:n.1198C>G
ENST00000697613.1:c.769C>G ENSP00000513359.1:p.His257Asp
ENST00000697614.1:c.532C>G ENSP00000513360.1:p.His178Asp
ENST00000697615.1:n.1597C>G