Canonical Allele Identifier: CA229709
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102799
ClinVar RCV Id: RCV000089050
dbSNP Id: rs62507283

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852941C>G , CM000674.2:g.102852941C>G GRCh38
NC_000012.11:g.103246719C>G , CM000674.1:g.103246719C>G GRCh37
NC_000012.10:g.101770849C>G NCBI36
NG_008690.1:g.69662G>C
NG_008690.2:g.110470G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.716G>C MANE Select ENSP00000448059.1:p.Gly239Ala
ENST00000307000.7:c.701G>C ENSP00000303500.2:p.Gly234Ala
ENST00000549247.6:n.475G>C
ENST00000553106.5:c.716G>C ENSP00000448059.1:p.Gly239Ala
NM_000277.1:c.716G>C NP_000268.1:p.Gly239Ala
XM_011538422.1:c.716G>C XP_011536724.1:p.Gly239Ala
NM_000277.2:c.716G>C NP_000268.1:p.Gly239Ala
NM_001354304.1:c.716G>C NP_001341233.1:p.Gly239Ala
NM_000277.3:c.716G>C MANE Select NP_000268.1:p.Gly239Ala
NM_001354304.2:c.716G>C NP_001341233.1:p.Gly239Ala