Canonical Allele Identifier: CA229706
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102797
ClinVar RCV Id: RCV000089048
dbSNP Id: rs62517178

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852942C>T , CM000674.2:g.102852942C>T GRCh38
NC_000012.11:g.103246720C>T , CM000674.1:g.103246720C>T GRCh37
NC_000012.10:g.101770850C>T NCBI36
NG_008690.1:g.69661G>A
NG_008690.2:g.110469G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.715G>A MANE Select ENSP00000448059.1:p.Gly239Ser
ENST00000307000.7:c.700G>A ENSP00000303500.2:p.Gly234Ser
ENST00000549247.6:n.474G>A
ENST00000553106.5:c.715G>A ENSP00000448059.1:p.Gly239Ser
NM_000277.1:c.715G>A NP_000268.1:p.Gly239Ser
XM_011538422.1:c.715G>A XP_011536724.1:p.Gly239Ser
NM_000277.2:c.715G>A NP_000268.1:p.Gly239Ser
NM_001354304.1:c.715G>A NP_001341233.1:p.Gly239Ser
NM_000277.3:c.715G>A MANE Select NP_000268.1:p.Gly239Ser
NM_001354304.2:c.715G>A NP_001341233.1:p.Gly239Ser