Canonical Allele Identifier: CA229635
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102744
dbSNP Id: rs199475585

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917073G>A , CM000674.2:g.102917073G>A GRCh38
NC_000012.11:g.103310851G>A , CM000674.1:g.103310851G>A GRCh37
NC_000012.10:g.101834981G>A NCBI36
NG_008690.1:g.5530C>T
NG_008690.2:g.46338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.58C>T MANE Select ENSP00000448059.1:p.Gln20Ter
ENST00000307000.7:c.-90C>T ENSP00000303500.2:n.-90C>T
ENST00000546844.1:c.58C>T ENSP00000446658.1:p.Gln20Ter
ENST00000547319.1:n.369C>T
ENST00000549111.5:n.154C>T
ENST00000550978.6:c.42C>T
ENST00000551337.5:c.58C>T ENSP00000447620.1:p.Gln20Ter
ENST00000551988.5:n.147C>T
ENST00000553106.5:c.58C>T ENSP00000448059.1:p.Gln20Ter
ENST00000635500.1:n.29-4175C>T
NM_000277.1:c.58C>T NP_000268.1:p.Gln20Ter
XM_011538422.1:c.58C>T XP_011536724.1:p.Gln20Ter
NM_000277.2:c.58C>T NP_000268.1:p.Gln20Ter
NM_001354304.1:c.58C>T NP_001341233.1:p.Gln20Ter
XM_017019370.2:c.58C>T XP_016874859.1:p.Gln20Ter
NM_000277.3:c.58C>T MANE Select NP_000268.1:p.Gln20Ter
NM_001354304.2:c.58C>T NP_001341233.1:p.Gln20Ter