Canonical Allele Identifier: CA229321
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102508
dbSNP Id: rs62507334

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843793G>C , CM000674.2:g.102843793G>C GRCh38
NC_000012.11:g.103237571G>C , CM000674.1:g.103237571G>C GRCh37
NC_000012.10:g.101761701G>C NCBI36
NG_008690.1:g.78810C>G
NG_008690.2:g.119618C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-14C>G MANE Select ENSP00000448059.1:n.1066-14C>G
ENST00000307000.7:c.1051-14C>G ENSP00000303500.2:n.1051-14C>G
ENST00000549247.6:n.825-14C>G
ENST00000551114.2:n.728-14C>G
ENST00000553106.5:c.1066-14C>G ENSP00000448059.1:n.1066-14C>G
ENST00000635477.1:c.170-14C>G
ENST00000635528.1:n.581-14C>G
NM_000277.1:c.1066-14C>G NP_000268.1:n.1066-14C>G
XM_011538422.1:c.1009-14C>G XP_011536724.1:n.1009-14C>G
NM_000277.2:c.1066-14C>G NP_000268.1:n.1066-14C>G
NM_001354304.1:c.1066-14C>G NP_001341233.1:n.1066-14C>G
NM_000277.3:c.1066-14C>G MANE Select NP_000268.1:n.1066-14C>G
NM_001354304.2:c.1066-14C>G NP_001341233.1:n.1066-14C>G