Canonical Allele Identifier: CA2059449347
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855205G= , CM000674.2:g.102855205G= GRCh38
NC_000012.11:g.103248983G= , CM000674.1:g.103248983G= GRCh37
NC_000012.10:g.101773113G= NCBI36
NG_008690.1:g.67398C=
NG_008690.2:g.108206C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.637C= MANE Select ENSP00000448059.1:p.Leu213=
ENST00000307000.7:c.622C= ENSP00000303500.2:p.Leu208=
ENST00000549111.5:n.733C=
ENST00000553106.5:c.637C= ENSP00000448059.1:p.Leu213=
NM_000277.1:c.637C= NP_000268.1:p.Leu213=
XM_011538422.1:c.637C= XP_011536724.1:p.Leu213=
NM_000277.2:c.637C= NP_000268.1:p.Leu213=
NM_001354304.1:c.637C= NP_001341233.1:p.Leu213=
XM_017019370.2:c.637C= XP_016874859.1:p.Leu213=
NM_000277.3:c.637C= MANE Select NP_000268.1:p.Leu213=
NM_001354304.2:c.637C= NP_001341233.1:p.Leu213=
Search 100 bp 5'
Search 100 bp 3'