Canonical Allele Identifier: CA658821440
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 557999
ClinVar RCV Id: RCV000674210
dbSNP Id: rs1555203401
MyVariant Identifiers: chr12:g.102840506del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840506del , CM000674.2:g.102840506del GRCh38
NC_000012.11:g.103234284del , CM000674.1:g.103234284del GRCh37
NC_000012.10:g.101758414del NCBI36
NG_008690.1:g.82097del
NG_008690.2:g.122905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1209del MANE Select ENSP00000448059.1:p.Ala404ProfsTer?
ENST00000307000.7:c.1194del ENSP00000303500.2:p.Ala399ProfsTer?
ENST00000551114.2:n.871del
ENST00000553106.5:c.1209del ENSP00000448059.1:p.Ala404ProfsTer?
ENST00000635477.1:c.313del
ENST00000635528.1:n.724del
NM_000277.1:c.1209del NP_000268.1:p.Ala404ProfsTer?
XM_011538422.1:c.1152del XP_011536724.1:p.Ala385ProfsTer?
NM_000277.2:c.1209del NP_000268.1:p.Ala404ProfsTer?
NM_001354304.1:c.1209del NP_001341233.1:p.Ala404ProfsTer?
NM_000277.3:c.1209del MANE Select NP_000268.1:p.Ala404ProfsTer?
NM_001354304.2:c.1209del NP_001341233.1:p.Ala404ProfsTer?