Canonical Allele Identifier: CA269921
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 133314
ClinVar RCV Id: RCV000119826
dbSNP Id: rs5030850

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852876G>C , CM000674.2:g.102852876G>C GRCh38
NC_000012.11:g.103246654G>C , CM000674.1:g.103246654G>C GRCh37
NC_000012.10:g.101770784G>C NCBI36
NG_008690.1:g.69727C>G
NG_008690.2:g.110535C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.781C>G MANE Select ENSP00000448059.1:p.Arg261Gly
ENST00000307000.7:c.766C>G ENSP00000303500.2:p.Arg256Gly
ENST00000549247.6:n.540C>G
ENST00000553106.5:c.781C>G ENSP00000448059.1:p.Arg261Gly
NM_000277.1:c.781C>G NP_000268.1:p.Arg261Gly
XM_011538422.1:c.781C>G XP_011536724.1:p.Arg261Gly
NM_000277.2:c.781C>G NP_000268.1:p.Arg261Gly
NM_001354304.1:c.781C>G NP_001341233.1:p.Arg261Gly
NM_000277.3:c.781C>G MANE Select NP_000268.1:p.Arg261Gly
NM_001354304.2:c.781C>G NP_001341233.1:p.Arg261Gly