Canonical Allele Identifier: CA16041559
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371102
ClinVar RCV Id: RCV000409667
dbSNP Id: rs1057517009

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852868del , CM000674.2:g.102852868del GRCh38
NC_000012.10:g.101770776del NCBI36
NC_000012.11:g.103246646del , CM000674.1:g.103246646del GRCh37
NG_008690.1:g.69736del

Transcript Alleles

HGVS Amino-acid change
ENST00000307000.7:c.775del ENSP00000303500.2:p.His259ThrfsTer?
ENST00000549247.6:n.549del
ENST00000553106.5:c.790del ENSP00000448059.1:p.His264ThrfsTer?
NM_000277.1:c.790del NP_000268.1:p.His264ThrfsTer?
XM_011538422.1:c.790del XP_011536724.1:p.His264ThrfsTer?