Canonical Allele Identifier: CA229844
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102891
ClinVar RCV Id: RCV000089153 RCV001543640
dbSNP Id: rs199475592
MyVariant Identifiers: chr12:g.103245466T>C (hg19) chr12:g.102851688T>C (hg38)
ERepo: CA229844/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851688T>C , CM000674.2:g.102851688T>C GRCh38
NC_000012.11:g.103245466T>C , CM000674.1:g.103245466T>C GRCh37
NC_000012.10:g.101769596T>C NCBI36
NG_008690.1:g.70915A>G
NG_008690.2:g.111723A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.911A>G MANE Select ENSP00000448059.1:p.Gln304Arg
ENST00000307000.7:c.896A>G ENSP00000303500.2:p.Gln299Arg
ENST00000549247.6:n.670A>G
ENST00000551114.2:n.573A>G
ENST00000553106.5:c.911A>G ENSP00000448059.1:p.Gln304Arg
ENST00000635477.1:c.72A>G
NM_000277.1:c.911A>G NP_000268.1:p.Gln304Arg
XM_011538422.1:c.911A>G XP_011536724.1:p.Gln304Arg
NM_000277.2:c.911A>G NP_000268.1:p.Gln304Arg
NM_001354304.1:c.911A>G NP_001341233.1:p.Gln304Arg
NM_000277.3:c.911A>G MANE Select NP_000268.1:p.Gln304Arg
NM_001354304.2:c.911A>G NP_001341233.1:p.Gln304Arg
Search 100 bp 5'
Search 100 bp 3'