Canonical Allele Identifier: CA2059476185
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917130T= , CM000674.2:g.102917130T= GRCh38
NC_000012.11:g.103310908T= , CM000674.1:g.103310908T= GRCh37
NC_000012.10:g.101835038T= NCBI36
NG_008690.1:g.5473A=
NG_008690.2:g.46281A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1A= MANE Select ENSP00000448059.1:p.Met1=
ENST00000307000.7:c.-147A= ENSP00000303500.2:n.-147A=
ENST00000546844.1:c.1A= ENSP00000446658.1:p.Met1=
ENST00000547319.1:n.312A=
ENST00000549111.5:n.97A=
ENST00000551337.5:c.1A= ENSP00000447620.1:p.Met1=
ENST00000551988.5:n.90A=
ENST00000553106.5:c.1A= ENSP00000448059.1:p.Met1=
ENST00000635500.1:n.29-4232A=
NM_000277.1:c.1A= NP_000268.1:p.Met1=
XM_011538422.1:c.1A= XP_011536724.1:p.Met1=
NM_000277.2:c.1A= NP_000268.1:p.Met1=
NM_001354304.1:c.1A= NP_001341233.1:p.Met1=
XM_017019370.2:c.1A= XP_016874859.1:p.Met1=
NM_000277.3:c.1A= MANE Select NP_000268.1:p.Met1=
NM_001354304.2:c.1A= NP_001341233.1:p.Met1=