Canonical Allele Identifier: CA267658
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120278
ClinVar RCV Id: RCV000106359
dbSNP Id: rs281865433

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855294_102855295delinsAA , CM000674.2:g.102855294_102855295delinsAA GRCh38
NC_000012.11:g.103249072_103249073delinsAA , CM000674.1:g.103249072_103249073delinsAA GRCh37
NC_000012.10:g.101773202_101773203delinsAA NCBI36
NG_008690.1:g.67308_67309delinsTT
NG_008690.2:g.108116_108117delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.547_548delinsTT MANE Select ENSP00000448059.1:p.Glu183Leu
ENST00000307000.7:c.532_533delinsTT ENSP00000303500.2:p.Glu178Leu
ENST00000549111.5:n.643_644delinsTT
ENST00000551988.5:n.568_569delinsTT
ENST00000553106.5:c.547_548delinsTT ENSP00000448059.1:p.Glu183Leu
NM_000277.1:c.547_548delinsTT NP_000268.1:p.Glu183Leu
XM_011538422.1:c.547_548delinsTT XP_011536724.1:p.Glu183Leu
NM_000277.2:c.547_548delinsTT NP_000268.1:p.Glu183Leu
NM_001354304.1:c.547_548delinsTT NP_001341233.1:p.Glu183Leu
XM_017019370.2:c.547_548delinsTT XP_016874859.1:p.Glu183Leu
NM_000277.3:c.547_548delinsTT MANE Select NP_000268.1:p.Glu183Leu
NM_001354304.2:c.547_548delinsTT NP_001341233.1:p.Glu183Leu