Canonical Allele Identifier: CA220587
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92749
dbSNP Id: rs199475654

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852816G>A , CM000674.2:g.102852816G>A GRCh38
NC_000012.11:g.103246594G>A , CM000674.1:g.103246594G>A GRCh37
NC_000012.10:g.101770724G>A NCBI36
NG_008690.1:g.69787C>T
NG_008690.2:g.110595C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.841C>T MANE Select ENSP00000448059.1:p.Pro281Ser
ENST00000307000.7:c.826C>T ENSP00000303500.2:p.Pro276Ser
ENST00000549247.6:n.600C>T
ENST00000553106.5:c.841C>T ENSP00000448059.1:p.Pro281Ser
ENST00000635477.1:c.2C>T
NM_000277.1:c.841C>T NP_000268.1:p.Pro281Ser
XM_011538422.1:c.841C>T XP_011536724.1:p.Pro281Ser
NM_000277.2:c.841C>T NP_000268.1:p.Pro281Ser
NM_001354304.1:c.841C>T NP_001341233.1:p.Pro281Ser
NM_000277.3:c.841C>T MANE Select NP_000268.1:p.Pro281Ser
NM_001354304.2:c.841C>T NP_001341233.1:p.Pro281Ser