Canonical Allele Identifier: CA16020778
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 872832
ClinVar RCV Id: RCV001093504
dbSNP Id: rs1876627337

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877542A>C , CM000674.2:g.102877542A>C GRCh38
NC_000012.11:g.103271320A>C , CM000674.1:g.103271320A>C GRCh37
NC_000012.10:g.101795450A>C NCBI36
NG_008690.1:g.45061T>G
NG_008690.2:g.85869T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.361T>G MANE Select ENSP00000448059.1:p.Phe121Val
ENST00000307000.7:c.346T>G ENSP00000303500.2:p.Phe116Val
ENST00000549111.5:n.457T>G
ENST00000550978.6:c.345T>G
ENST00000551337.5:c.361T>G ENSP00000447620.1:p.Phe121Val
ENST00000551988.5:n.450T>G
ENST00000553106.5:c.361T>G ENSP00000448059.1:p.Phe121Val
NM_000277.1:c.361T>G NP_000268.1:p.Phe121Val
XM_011538422.1:c.361T>G XP_011536724.1:p.Phe121Val
NM_000277.2:c.361T>G NP_000268.1:p.Phe121Val
NM_001354304.1:c.361T>G NP_001341233.1:p.Phe121Val
XM_017019370.2:c.361T>G XP_016874859.1:p.Phe121Val
NM_000277.3:c.361T>G MANE Select NP_000268.1:p.Phe121Val
NM_001354304.2:c.361T>G NP_001341233.1:p.Phe121Val