Canonical Allele Identifier: CA267667
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120283
ClinVar RCV Id: RCV000106364
dbSNP Id: rs281865443

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.632C>T MANE Select ENSP00000448059.1:p.Pro211Leu
ENST00000307000.7:c.617C>T ENSP00000303500.2:p.Pro206Leu
ENST00000549111.5:n.728C>T
ENST00000553106.5:c.632C>T ENSP00000448059.1:p.Pro211Leu
NM_000277.1:c.632C>T NP_000268.1:p.Pro211Leu
XM_011538422.1:c.632C>T XP_011536724.1:p.Pro211Leu
NM_000277.2:c.632C>T NP_000268.1:p.Pro211Leu
NM_001354304.1:c.632C>T NP_001341233.1:p.Pro211Leu
XM_017019370.2:c.632C>T XP_016874859.1:p.Pro211Leu
NM_000277.3:c.632C>T MANE Select NP_000268.1:p.Pro211Leu
NM_001354304.2:c.632C>T NP_001341233.1:p.Pro211Leu