Canonical Allele Identifier: CA2059456981
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866607G= , CM000674.2:g.102866607G= GRCh38
NC_000012.11:g.103260385G= , CM000674.1:g.103260385G= GRCh37
NC_000012.10:g.101784515G= NCBI36
NG_008690.1:g.55996C=
NG_008690.2:g.96804C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.498C= MANE Select ENSP00000448059.1:p.Tyr166=
ENST00000307000.7:c.483C= ENSP00000303500.2:p.Tyr161=
ENST00000549111.5:n.594C=
ENST00000551988.5:n.530+10855C=
ENST00000553106.5:c.498C= ENSP00000448059.1:p.Tyr166=
NM_000277.1:c.498C= NP_000268.1:p.Tyr166=
XM_011538422.1:c.498C= XP_011536724.1:p.Tyr166=
NM_000277.2:c.498C= NP_000268.1:p.Tyr166=
NM_001354304.1:c.498C= NP_001341233.1:p.Tyr166=
XM_017019370.2:c.498C= XP_016874859.1:p.Tyr166=
NM_000277.3:c.498C= MANE Select NP_000268.1:p.Tyr166=
NM_001354304.2:c.498C= NP_001341233.1:p.Tyr166=
Search 100 bp 5'
Search 100 bp 3'