Canonical Allele Identifier: CA229666
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102766
dbSNP Id: rs62514931

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855211G>T , CM000674.2:g.102855211G>T GRCh38
NC_000012.11:g.103248989G>T , CM000674.1:g.103248989G>T GRCh37
NC_000012.10:g.101773119G>T NCBI36
NG_008690.1:g.67392C>A
NG_008690.2:g.108200C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.631C>A MANE Select ENSP00000448059.1:p.Pro211Thr
ENST00000307000.7:c.616C>A ENSP00000303500.2:p.Pro206Thr
ENST00000549111.5:n.727C>A
ENST00000553106.5:c.631C>A ENSP00000448059.1:p.Pro211Thr
NM_000277.1:c.631C>A NP_000268.1:p.Pro211Thr
XM_011538422.1:c.631C>A XP_011536724.1:p.Pro211Thr
NM_000277.2:c.631C>A NP_000268.1:p.Pro211Thr
NM_001354304.1:c.631C>A NP_001341233.1:p.Pro211Thr
XM_017019370.2:c.631C>A XP_016874859.1:p.Pro211Thr
NM_000277.3:c.631C>A MANE Select NP_000268.1:p.Pro211Thr
NM_001354304.2:c.631C>A NP_001341233.1:p.Pro211Thr