Canonical Allele Identifier: CA229384
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102555
dbSNP Id: rs62508613

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843629C>T , CM000674.2:g.102843629C>T GRCh38
NC_000012.11:g.103237407C>T , CM000674.1:g.103237407C>T GRCh37
NC_000012.10:g.101761537C>T NCBI36
NG_008690.1:g.78974G>A
NG_008690.2:g.119782G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+17G>A MANE Select ENSP00000448059.1:n.1199+17G>A
ENST00000307000.7:c.1184+17G>A ENSP00000303500.2:n.1184+17G>A
ENST00000549247.6:n.958+17G>A
ENST00000551114.2:n.861+17G>A
ENST00000553106.5:c.1199+17G>A ENSP00000448059.1:n.1199+17G>A
ENST00000635477.1:c.303+17G>A
ENST00000635528.1:n.714+17G>A
NM_000277.1:c.1199+17G>A NP_000268.1:n.1199+17G>A
XM_011538422.1:c.1142+17G>A XP_011536724.1:n.1142+17G>A
NM_000277.2:c.1199+17G>A NP_000268.1:n.1199+17G>A
NM_001354304.1:c.1199+17G>A NP_001341233.1:n.1199+17G>A
NM_000277.3:c.1199+17G>A MANE Select NP_000268.1:n.1199+17G>A
NM_001354304.2:c.1199+17G>A NP_001341233.1:n.1199+17G>A