Canonical Allele Identifier: CA485162532

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475053G>C , CM000676.2:g.20475053G>C	GRCh38
NC_000014.8:g.20943212G>C , CM000676.1:g.20943212G>C	GRCh37
NC_000014.7:g.20013052G>C	NCBI36
NG_009631.1:g.10671G>C , LRG_91:g.10671G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.462-9G>C MANE Select	NP_000261.2:n.462-9G>C
ENST00000361505.10:c.462-9G>C MANE Select	ENSP00000354532.6:n.462-9G>C
NM_000270.3:c.462-9G>C , LRG_91t1:c.462-9G>C	NP_000261.2:n.462-9G>C
ENST00000361505.9:c.462-9G>C	ENSP00000354532.5:n.462-9G>C
ENST00000553591.1:c.579-9G>C	ENSP00000452421.1:n.579-9G>C
ENST00000553591.2:c.579-9G>C	ENSP00000452421.2:n.579-9G>C
ENST00000554056.5:n.770-9G>C
ENST00000556293.6:n.2876G>C
ENST00000556754.1:n.1670G>C
ENST00000556754.2:n.3819G>C
ENST00000557229.5:n.882G>C
ENST00000557229.6:n.882G>C
ENST00000697613.1:c.462-9G>C	ENSP00000513359.1:n.462-9G>C
ENST00000697614.1:c.225-9G>C	ENSP00000513360.1:n.225-9G>C
ENST00000697615.1:n.1281G>C