Canonical Allele Identifier: CA251544
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 636
dbSNP Id: rs75193786

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894893A>G , CM000674.2:g.102894893A>G GRCh38
NC_000012.11:g.103288671A>G , CM000674.1:g.103288671A>G GRCh37
NC_000012.10:g.101812801A>G NCBI36
NG_008690.1:g.27710T>C
NG_008690.2:g.68518T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.194T>C MANE Select ENSP00000448059.1:p.Ile65Thr
ENST00000307000.7:c.179T>C ENSP00000303500.2:p.Ile60Thr
ENST00000546844.1:c.194T>C ENSP00000446658.1:p.Ile65Thr
ENST00000548677.2:n.281T>C
ENST00000548928.1:n.116T>C
ENST00000549111.5:n.290T>C
ENST00000550978.6:c.178T>C
ENST00000551337.5:c.194T>C ENSP00000447620.1:p.Ile65Thr
ENST00000551988.5:n.283T>C
ENST00000553106.5:c.194T>C ENSP00000448059.1:p.Ile65Thr
ENST00000635500.1:n.162T>C
NM_000277.1:c.194T>C NP_000268.1:p.Ile65Thr
XM_011538422.1:c.194T>C XP_011536724.1:p.Ile65Thr
NM_000277.2:c.194T>C NP_000268.1:p.Ile65Thr
NM_001354304.1:c.194T>C NP_001341233.1:p.Ile65Thr
XM_017019370.2:c.194T>C XP_016874859.1:p.Ile65Thr
NM_000277.3:c.194T>C MANE Select NP_000268.1:p.Ile65Thr
NM_001354304.2:c.194T>C NP_001341233.1:p.Ile65Thr