Canonical Allele Identifier: CA386297051
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1983110
ClinVar RCV Id: RCV002795207

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855327T>C , CM000674.2:g.102855327T>C GRCh38
NC_000012.11:g.103249105T>C , CM000674.1:g.103249105T>C GRCh37
NC_000012.10:g.101773235T>C NCBI36
NG_008690.1:g.67276A>G
NG_008690.2:g.108084A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.515A>G MANE Select ENSP00000448059.1:p.Gln172Arg
ENST00000307000.7:c.500A>G ENSP00000303500.2:p.Gln167Arg
ENST00000549111.5:n.611A>G
ENST00000551988.5:n.536A>G
ENST00000553106.5:c.515A>G ENSP00000448059.1:p.Gln172Arg
NM_000277.1:c.515A>G NP_000268.1:p.Gln172Arg
XM_011538422.1:c.515A>G XP_011536724.1:p.Gln172Arg
NM_000277.2:c.515A>G NP_000268.1:p.Gln172Arg
NM_001354304.1:c.515A>G NP_001341233.1:p.Gln172Arg
XM_017019370.2:c.515A>G XP_016874859.1:p.Gln172Arg
NM_000277.3:c.515A>G MANE Select NP_000268.1:p.Gln172Arg
NM_001354304.2:c.515A>G NP_001341233.1:p.Gln172Arg