Canonical Allele Identifier: CA2059449418
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855226A= , CM000674.2:g.102855226A= GRCh38
NC_000012.11:g.103249004A= , CM000674.1:g.103249004A= GRCh37
NC_000012.10:g.101773134A= NCBI36
NG_008690.1:g.67377T=
NG_008690.2:g.108185T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.616T= MANE Select ENSP00000448059.1:p.Tyr206=
ENST00000307000.7:c.601T= ENSP00000303500.2:p.Tyr201=
ENST00000549111.5:n.712T=
ENST00000553106.5:c.616T= ENSP00000448059.1:p.Tyr206=
NM_000277.1:c.616T= NP_000268.1:p.Tyr206=
XM_011538422.1:c.616T= XP_011536724.1:p.Tyr206=
NM_000277.2:c.616T= NP_000268.1:p.Tyr206=
NM_001354304.1:c.616T= NP_001341233.1:p.Tyr206=
XM_017019370.2:c.616T= XP_016874859.1:p.Tyr206=
NM_000277.3:c.616T= MANE Select NP_000268.1:p.Tyr206=
NM_001354304.2:c.616T= NP_001341233.1:p.Tyr206=