Canonical Allele Identifier: CA16020752
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 495789
ClinVar RCV Id: RCV000590560
dbSNP Id: rs762949770

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894861C>A , CM000674.2:g.102894861C>A GRCh38
NC_000012.11:g.103288639C>A , CM000674.1:g.103288639C>A GRCh37
NC_000012.10:g.101812769C>A NCBI36
NG_008690.1:g.27742G>T
NG_008690.2:g.68550G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.226G>T MANE Select ENSP00000448059.1:p.Glu76Ter
ENST00000307000.7:c.211G>T ENSP00000303500.2:p.Glu71Ter
ENST00000546844.1:c.226G>T ENSP00000446658.1:p.Glu76Ter
ENST00000548677.2:n.313G>T
ENST00000548928.1:n.148G>T
ENST00000549111.5:n.322G>T
ENST00000550978.6:c.210G>T
ENST00000551337.5:c.226G>T ENSP00000447620.1:p.Glu76Ter
ENST00000551988.5:n.315G>T
ENST00000553106.5:c.226G>T ENSP00000448059.1:p.Glu76Ter
NM_000277.1:c.226G>T NP_000268.1:p.Glu76Ter
XM_011538422.1:c.226G>T XP_011536724.1:p.Glu76Ter
NM_000277.2:c.226G>T NP_000268.1:p.Glu76Ter
NM_001354304.1:c.226G>T NP_001341233.1:p.Glu76Ter
XM_017019370.2:c.226G>T XP_016874859.1:p.Glu76Ter
NM_000277.3:c.226G>T MANE Select NP_000268.1:p.Glu76Ter
NM_001354304.2:c.226G>T NP_001341233.1:p.Glu76Ter