Canonical Allele Identifier: CA118330
Gene: PNPO HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6525
ClinVar RCV Id: RCV000006898
dbSNP Id: rs104894631

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946780T>C , CM000679.2:g.47946780T>C GRCh38
NC_000017.9:g.43379145T>C NCBI36
NC_000017.10:g.46024146T>C , CM000679.1:g.46024146T>C GRCh37
NG_008744.1:g.10258T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225573.4:c.784T>C ENSP00000225573.4:p.Ter262Gln
ENST00000434554.6:c.655T>C ENSP00000399960.2:p.Ter219Gln
ENST00000582171.5:c.*449T>C ENSP00000463994.1:p.=
ENST00000584806.1:n.453T>C
NM_018129.3:c.784T>C NP_060599.1:p.Ter262Gln
XM_005257500.2:c.544T>C XP_005257557.1:p.Ter182Gln
XM_011524968.1:c.499T>C XP_011523270.1:p.Ter167Gln