Canonical Allele Identifier: CA229521
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102655
dbSNP Id: rs62517195

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877556A>T , CM000674.2:g.102877556A>T GRCh38
NC_000012.11:g.103271334A>T , CM000674.1:g.103271334A>T GRCh37
NC_000012.10:g.101795464A>T NCBI36
NG_008690.1:g.45047T>A
NG_008690.2:g.85855T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-6T>A MANE Select ENSP00000448059.1:n.353-6T>A
ENST00000307000.7:c.338-6T>A ENSP00000303500.2:n.338-6T>A
ENST00000549111.5:n.449-6T>A
ENST00000550978.6:c.337-6T>A
ENST00000551337.5:c.353-6T>A ENSP00000447620.1:n.353-6T>A
ENST00000551988.5:n.442-6T>A
ENST00000553106.5:c.353-6T>A ENSP00000448059.1:n.353-6T>A
NM_000277.1:c.353-6T>A NP_000268.1:n.353-6T>A
XM_011538422.1:c.353-6T>A XP_011536724.1:n.353-6T>A
NM_000277.2:c.353-6T>A NP_000268.1:n.353-6T>A
NM_001354304.1:c.353-6T>A NP_001341233.1:n.353-6T>A
XM_017019370.2:c.353-6T>A XP_016874859.1:n.353-6T>A
NM_000277.3:c.353-6T>A MANE Select NP_000268.1:n.353-6T>A
NM_001354304.2:c.353-6T>A NP_001341233.1:n.353-6T>A