Canonical Allele Identifier: CA386296671
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1480414
ClinVar RCV Id: RCV002022060
dbSNP Id: rs281865443

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855210G>T , CM000674.2:g.102855210G>T GRCh38
NC_000012.11:g.103248988G>T , CM000674.1:g.103248988G>T GRCh37
NC_000012.10:g.101773118G>T NCBI36
NG_008690.1:g.67393C>A
NG_008690.2:g.108201C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.632C>A MANE Select ENSP00000448059.1:p.Pro211Gln
ENST00000307000.7:c.617C>A ENSP00000303500.2:p.Pro206Gln
ENST00000549111.5:n.728C>A
ENST00000553106.5:c.632C>A ENSP00000448059.1:p.Pro211Gln
NM_000277.1:c.632C>A NP_000268.1:p.Pro211Gln
XM_011538422.1:c.632C>A XP_011536724.1:p.Pro211Gln
NM_000277.2:c.632C>A NP_000268.1:p.Pro211Gln
NM_001354304.1:c.632C>A NP_001341233.1:p.Pro211Gln
XM_017019370.2:c.632C>A XP_016874859.1:p.Pro211Gln
NM_000277.3:c.632C>A MANE Select NP_000268.1:p.Pro211Gln
NM_001354304.2:c.632C>A NP_001341233.1:p.Pro211Gln