Canonical Allele Identifier: CA386492925
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840406T>A , CM000674.2:g.102840406T>A GRCh38
NC_000012.11:g.103234184T>A , CM000674.1:g.103234184T>A GRCh37
NC_000012.10:g.101758314T>A NCBI36
NG_008690.1:g.82197A>T
NG_008690.2:g.123005A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1309A>T MANE Select ENSP00000448059.1:p.Ile437Phe
ENST00000307000.7:c.1294A>T ENSP00000303500.2:p.Ile432Phe
ENST00000551114.2:n.971A>T
ENST00000553106.5:c.1309A>T ENSP00000448059.1:p.Ile437Phe
ENST00000635477.1:n.413A>T
ENST00000635528.1:n.824A>T
NM_000277.1:c.1309A>T NP_000268.1:p.Ile437Phe
XM_011538422.1:c.1252A>T XP_011536724.1:p.Ile418Phe
NM_000277.2:c.1309A>T NP_000268.1:p.Ile437Phe
NM_001354304.1:c.1309A>T NP_001341233.1:p.Ile437Phe
NM_000277.3:c.1309A>T MANE Select NP_000268.1:p.Ile437Phe
NM_001354304.2:c.1309A>T NP_001341233.1:p.Ile437Phe