Canonical Allele Identifier: CA220578
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92737
dbSNP Id: rs140945592

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894918C>T , CM000674.2:g.102894918C>T GRCh38
NC_000012.11:g.103288696C>T , CM000674.1:g.103288696C>T GRCh37
NC_000012.10:g.101812826C>T NCBI36
NG_008690.1:g.27685G>A
NG_008690.2:g.68493G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169G>A MANE Select ENSP00000448059.1:p.Glu57Lys
ENST00000307000.7:c.154G>A ENSP00000303500.2:p.Glu52Lys
ENST00000546844.1:c.169G>A ENSP00000446658.1:p.Glu57Lys
ENST00000548677.2:n.256G>A
ENST00000548928.1:n.91G>A
ENST00000549111.5:n.265G>A
ENST00000550978.6:n.153G>A
ENST00000551337.5:c.169G>A ENSP00000447620.1:p.Glu57Lys
ENST00000551988.5:n.258G>A
ENST00000553106.5:c.169G>A ENSP00000448059.1:p.Glu57Lys
ENST00000635500.1:n.137G>A
NM_000277.1:c.169G>A NP_000268.1:p.Glu57Lys
XM_011538422.1:c.169G>A XP_011536724.1:p.Glu57Lys
NM_000277.2:c.169G>A NP_000268.1:p.Glu57Lys
NM_001354304.1:c.169G>A NP_001341233.1:p.Glu57Lys
XM_017019370.2:c.169G>A XP_016874859.1:p.Glu57Lys
NM_000277.3:c.169G>A MANE Select NP_000268.1:p.Glu57Lys
NM_001354304.2:c.169G>A NP_001341233.1:p.Glu57Lys