Canonical Allele Identifier: CA485450738
Gene: PNP HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.20943148A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20474989A>T , CM000676.2:g.20474989A>T GRCh38
NC_000014.8:g.20943148A>T , CM000676.1:g.20943148A>T GRCh37
NC_000014.7:g.20012988A>T NCBI36
NG_009631.1:g.10607A>T , LRG_91:g.10607A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.578+41A>T ENSP00000452421.2:n.578+41A>T
ENST00000556293.6:n.2812A>T
ENST00000556754.2:n.3755A>T
ENST00000557229.6:n.818A>T
ENST00000697613.1:c.461+41A>T ENSP00000513359.1:n.461+41A>T
ENST00000697614.1:c.224+41A>T ENSP00000513360.1:n.224+41A>T
ENST00000697615.1:n.1217A>T
ENST00000361505.10:c.461+41A>T MANE Select ENSP00000354532.6:n.461+41A>T
ENST00000361505.9:c.461+41A>T ENSP00000354532.5:n.461+41A>T
ENST00000553591.1:c.578+41A>T ENSP00000452421.1:n.578+41A>T
ENST00000554056.5:n.769+41A>T
ENST00000556754.1:n.1606A>T
ENST00000557229.5:n.818A>T
NM_000270.3:c.461+41A>T , LRG_91t1:c.461+41A>T NP_000261.2:n.461+41A>T
NM_000270.4:c.461+41A>T MANE Select NP_000261.2:n.461+41A>T