Canonical Allele Identifier: CA386294512
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851752T>G , CM000674.2:g.102851752T>G GRCh38
NC_000012.11:g.103245530T>G , CM000674.1:g.103245530T>G GRCh37
NC_000012.10:g.101769660T>G NCBI36
NG_008690.1:g.70851A>C
NG_008690.2:g.111659A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.847A>C MANE Select ENSP00000448059.1:p.Ile283Leu
ENST00000307000.7:c.832A>C ENSP00000303500.2:p.Ile278Leu
ENST00000549247.6:n.606A>C
ENST00000551114.2:n.509A>C
ENST00000553106.5:c.847A>C ENSP00000448059.1:p.Ile283Leu
ENST00000635477.1:c.8A>C
NM_000277.1:c.847A>C NP_000268.1:p.Ile283Leu
XM_011538422.1:c.847A>C XP_011536724.1:p.Ile283Leu
NM_000277.2:c.847A>C NP_000268.1:p.Ile283Leu
NM_001354304.1:c.847A>C NP_001341233.1:p.Ile283Leu
NM_000277.3:c.847A>C MANE Select NP_000268.1:p.Ile283Leu
NM_001354304.2:c.847A>C NP_001341233.1:p.Ile283Leu