Canonical Allele Identifier: CA229511
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102648
dbSNP Id: rs62508591

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894782A>G , CM000674.2:g.102894782A>G GRCh38
NC_000012.11:g.103288560A>G , CM000674.1:g.103288560A>G GRCh37
NC_000012.10:g.101812690A>G NCBI36
NG_008690.1:g.27821T>C
NG_008690.2:g.68629T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.305T>C MANE Select ENSP00000448059.1:p.Ile102Thr
ENST00000307000.7:c.290T>C ENSP00000303500.2:p.Ile97Thr
ENST00000546844.1:c.305T>C ENSP00000446658.1:p.Ile102Thr
ENST00000548928.1:n.227T>C
ENST00000549111.5:n.401T>C
ENST00000550978.6:c.289T>C
ENST00000551337.5:c.305T>C ENSP00000447620.1:p.Ile102Thr
ENST00000551988.5:n.394T>C
ENST00000553106.5:c.305T>C ENSP00000448059.1:p.Ile102Thr
NM_000277.1:c.305T>C NP_000268.1:p.Ile102Thr
XM_011538422.1:c.305T>C XP_011536724.1:p.Ile102Thr
NM_000277.2:c.305T>C NP_000268.1:p.Ile102Thr
NM_001354304.1:c.305T>C NP_001341233.1:p.Ile102Thr
XM_017019370.2:c.305T>C XP_016874859.1:p.Ile102Thr
NM_000277.3:c.305T>C MANE Select NP_000268.1:p.Ile102Thr
NM_001354304.2:c.305T>C NP_001341233.1:p.Ile102Thr