Canonical Allele Identifier: CA229802
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102862
dbSNP Id: rs62507262

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852824G>T , CM000674.2:g.102852824G>T GRCh38
NC_000012.11:g.103246602G>T , CM000674.1:g.103246602G>T GRCh37
NC_000012.10:g.101770732G>T NCBI36
NG_008690.1:g.69779C>A
NG_008690.2:g.110587C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.833C>A MANE Select ENSP00000448059.1:p.Thr278Asn
ENST00000307000.7:c.818C>A ENSP00000303500.2:p.Thr273Asn
ENST00000549247.6:n.592C>A
ENST00000553106.5:c.833C>A ENSP00000448059.1:p.Thr278Asn
NM_000277.1:c.833C>A NP_000268.1:p.Thr278Asn
XM_011538422.1:c.833C>A XP_011536724.1:p.Thr278Asn
NM_000277.2:c.833C>A NP_000268.1:p.Thr278Asn
NM_001354304.1:c.833C>A NP_001341233.1:p.Thr278Asn
NM_000277.3:c.833C>A MANE Select NP_000268.1:p.Thr278Asn
NM_001354304.2:c.833C>A NP_001341233.1:p.Thr278Asn