Canonical Allele Identifier: CA274903
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102751
dbSNP Id: rs62514895

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917066C>A , CM000674.2:g.102917066C>A GRCh38
NC_000012.11:g.103310844C>A , CM000674.1:g.103310844C>A GRCh37
NC_000012.10:g.101834974C>A NCBI36
NG_008690.1:g.5537G>T
NG_008690.2:g.46345G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+5G>T MANE Select ENSP00000448059.1:n.60+5G>T
ENST00000307000.7:c.-88+5G>T ENSP00000303500.2:n.-88+5G>T
ENST00000546844.1:c.60+5G>T ENSP00000446658.1:n.60+5G>T
ENST00000547319.1:n.371+5G>T
ENST00000549111.5:n.156+5G>T
ENST00000550978.6:c.44+5G>T
ENST00000551337.5:c.60+5G>T ENSP00000447620.1:n.60+5G>T
ENST00000551988.5:n.149+5G>T
ENST00000553106.5:c.60+5G>T ENSP00000448059.1:n.60+5G>T
ENST00000635500.1:n.29-4168G>T
NM_000277.1:c.60+5G>T NP_000268.1:n.60+5G>T
XM_011538422.1:c.60+5G>T XP_011536724.1:n.60+5G>T
NM_000277.2:c.60+5G>T NP_000268.1:n.60+5G>T
NM_001354304.1:c.60+5G>T NP_001341233.1:n.60+5G>T
XM_017019370.2:c.60+5G>T XP_016874859.1:n.60+5G>T
NM_000277.3:c.60+5G>T MANE Select NP_000268.1:n.60+5G>T
NM_001354304.2:c.60+5G>T NP_001341233.1:n.60+5G>T