Canonical Allele Identifier: CA229324
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 623
dbSNP Id: rs62507344

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843782G>A , CM000674.2:g.102843782G>A GRCh38
NC_000012.11:g.103237560G>A , CM000674.1:g.103237560G>A GRCh37
NC_000012.10:g.101761690G>A NCBI36
NG_008690.1:g.78821C>T
NG_008690.2:g.119629C>T

Transcript Alleles

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