Canonical Allele Identifier: CA229447
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102601
dbSNP Id: rs118092776

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912801C>T , CM000674.2:g.102912801C>T GRCh38
NC_000012.11:g.103306579C>T , CM000674.1:g.103306579C>T GRCh37
NC_000012.10:g.101830709C>T NCBI36
NG_008690.1:g.9802G>A
NG_008690.2:g.50610G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.158G>A MANE Select ENSP00000448059.1:p.Arg53His
ENST00000307000.7:c.143G>A ENSP00000303500.2:p.Arg48His
ENST00000546844.1:c.158G>A ENSP00000446658.1:p.Arg53His
ENST00000548677.2:n.245G>A
ENST00000548928.1:n.80G>A
ENST00000549111.5:n.254G>A
ENST00000550978.6:n.142G>A
ENST00000551337.5:c.158G>A ENSP00000447620.1:p.Arg53His
ENST00000551988.5:n.247G>A
ENST00000553106.5:c.158G>A ENSP00000448059.1:p.Arg53His
ENST00000635500.1:n.126G>A
NM_000277.1:c.158G>A NP_000268.1:p.Arg53His
XM_011538422.1:c.158G>A XP_011536724.1:p.Arg53His
NM_000277.2:c.158G>A NP_000268.1:p.Arg53His
NM_001354304.1:c.158G>A NP_001341233.1:p.Arg53His
XM_017019370.2:c.158G>A XP_016874859.1:p.Arg53His
NM_000277.3:c.158G>A MANE Select NP_000268.1:p.Arg53His
NM_001354304.2:c.158G>A NP_001341233.1:p.Arg53His