Canonical Allele Identifier: CA16020854
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932252
ClinVar RCV Id: RCV001199976
dbSNP Id: rs62644503

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852902C>G , CM000674.2:g.102852902C>G GRCh38
NC_000012.11:g.103246680C>G , CM000674.1:g.103246680C>G GRCh37
NC_000012.10:g.101770810C>G NCBI36
NG_008690.1:g.69701G>C
NG_008690.2:g.110509G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.755G>C MANE Select ENSP00000448059.1:p.Arg252Pro
ENST00000307000.7:c.740G>C ENSP00000303500.2:p.Arg247Pro
ENST00000549247.6:n.514G>C
ENST00000553106.5:c.755G>C ENSP00000448059.1:p.Arg252Pro
NM_000277.1:c.755G>C NP_000268.1:p.Arg252Pro
XM_011538422.1:c.755G>C XP_011536724.1:p.Arg252Pro
NM_000277.2:c.755G>C NP_000268.1:p.Arg252Pro
NM_001354304.1:c.755G>C NP_001341233.1:p.Arg252Pro
NM_000277.3:c.755G>C MANE Select NP_000268.1:p.Arg252Pro
NM_001354304.2:c.755G>C NP_001341233.1:p.Arg252Pro