Canonical Allele Identifier: CA229520
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102654
dbSNP Id: rs2037639

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877572G>A , CM000674.2:g.102877572G>A GRCh38
NC_000012.11:g.103271350G>A , CM000674.1:g.103271350G>A GRCh37
NC_000012.10:g.101795480G>A NCBI36
NG_008690.1:g.45031C>T
NG_008690.2:g.85839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-22C>T MANE Select ENSP00000448059.1:n.353-22C>T
ENST00000307000.7:c.338-22C>T ENSP00000303500.2:n.338-22C>T
ENST00000549111.5:n.449-22C>T
ENST00000550978.6:c.337-22C>T
ENST00000551337.5:c.353-22C>T ENSP00000447620.1:n.353-22C>T
ENST00000551988.5:n.442-22C>T
ENST00000553106.5:c.353-22C>T ENSP00000448059.1:n.353-22C>T
NM_000277.1:c.353-22C>T NP_000268.1:n.353-22C>T
XM_011538422.1:c.353-22C>T XP_011536724.1:n.353-22C>T
NM_000277.2:c.353-22C>T NP_000268.1:n.353-22C>T
NM_001354304.1:c.353-22C>T NP_001341233.1:n.353-22C>T
XM_017019370.2:c.353-22C>T XP_016874859.1:n.353-22C>T
NM_000277.3:c.353-22C>T MANE Select NP_000268.1:n.353-22C>T
NM_001354304.2:c.353-22C>T NP_001341233.1:n.353-22C>T