Canonical Allele Identifier: CA229753
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102830
dbSNP Id: rs62642908

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852887C>A , CM000674.2:g.102852887C>A GRCh38
NC_000012.11:g.103246665C>A , CM000674.1:g.103246665C>A GRCh37
NC_000012.10:g.101770795C>A NCBI36
NG_008690.1:g.69716G>T
NG_008690.2:g.110524G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.770G>T MANE Select ENSP00000448059.1:p.Gly257Val
ENST00000307000.7:c.755G>T ENSP00000303500.2:p.Gly252Val
ENST00000549247.6:n.529G>T
ENST00000553106.5:c.770G>T ENSP00000448059.1:p.Gly257Val
NM_000277.1:c.770G>T NP_000268.1:p.Gly257Val
XM_011538422.1:c.770G>T XP_011536724.1:p.Gly257Val
NM_000277.2:c.770G>T NP_000268.1:p.Gly257Val
NM_001354304.1:c.770G>T NP_001341233.1:p.Gly257Val
NM_000277.3:c.770G>T MANE Select NP_000268.1:p.Gly257Val
NM_001354304.2:c.770G>T NP_001341233.1:p.Gly257Val