Canonical Allele Identifier: CA16020922
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932253
ClinVar RCV Id: RCV001199977
dbSNP Id: rs1874733519

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844358A>G , CM000674.2:g.102844358A>G GRCh38
NC_000012.11:g.103238136A>G , CM000674.1:g.103238136A>G GRCh37
NC_000012.10:g.101762266A>G NCBI36
NG_008690.1:g.78245T>C
NG_008690.2:g.119053T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1043T>C MANE Select ENSP00000448059.1:p.Leu348Pro
ENST00000307000.7:c.1028T>C ENSP00000303500.2:p.Leu343Pro
ENST00000549247.6:n.802T>C
ENST00000551114.2:n.705T>C
ENST00000553106.5:c.1043T>C ENSP00000448059.1:p.Leu348Pro
ENST00000635477.1:c.147T>C
ENST00000635528.1:n.558T>C
NM_000277.1:c.1043T>C NP_000268.1:p.Leu348Pro
XM_011538422.1:c.986T>C XP_011536724.1:p.Leu329Pro
NM_000277.2:c.1043T>C NP_000268.1:p.Leu348Pro
NM_001354304.1:c.1043T>C NP_001341233.1:p.Leu348Pro
NM_000277.3:c.1043T>C MANE Select NP_000268.1:p.Leu348Pro
NM_001354304.2:c.1043T>C NP_001341233.1:p.Leu348Pro