Canonical Allele Identifier: CA481578537
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1106957
ClinVar RCV Id: RCV001431869
dbSNP Id: rs1347265181

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855209T>G , CM000674.2:g.102855209T>G GRCh38
NC_000012.11:g.103248987T>G , CM000674.1:g.103248987T>G GRCh37
NC_000012.10:g.101773117T>G NCBI36
NG_008690.1:g.67394A>C
NG_008690.2:g.108202A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.633A>C MANE Select ENSP00000448059.1:p.Pro211=
ENST00000307000.7:c.618A>C ENSP00000303500.2:p.Pro206=
ENST00000549111.5:n.729A>C
ENST00000553106.5:c.633A>C ENSP00000448059.1:p.Pro211=
NM_000277.1:c.633A>C NP_000268.1:p.Pro211=
XM_011538422.1:c.633A>C XP_011536724.1:p.Pro211=
NM_000277.2:c.633A>C NP_000268.1:p.Pro211=
NM_001354304.1:c.633A>C NP_001341233.1:p.Pro211=
XM_017019370.2:c.633A>C XP_016874859.1:p.Pro211=
NM_000277.3:c.633A>C MANE Select NP_000268.1:p.Pro211=
NM_001354304.2:c.633A>C NP_001341233.1:p.Pro211=