Canonical Allele Identifier: CA229725
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102811
dbSNP Id: rs76212747

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852923A>T , CM000674.2:g.102852923A>T GRCh38
NC_000012.11:g.103246701A>T , CM000674.1:g.103246701A>T GRCh37
NC_000012.10:g.101770831A>T NCBI36
NG_008690.1:g.69680T>A
NG_008690.2:g.110488T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.734T>A MANE Select ENSP00000448059.1:p.Val245Glu
ENST00000307000.7:c.719T>A ENSP00000303500.2:p.Val240Glu
ENST00000549247.6:n.493T>A
ENST00000553106.5:c.734T>A ENSP00000448059.1:p.Val245Glu
NM_000277.1:c.734T>A NP_000268.1:p.Val245Glu
XM_011538422.1:c.734T>A XP_011536724.1:p.Val245Glu
NM_000277.2:c.734T>A NP_000268.1:p.Val245Glu
NM_001354304.1:c.734T>A NP_001341233.1:p.Val245Glu
NM_000277.3:c.734T>A MANE Select NP_000268.1:p.Val245Glu
NM_001354304.2:c.734T>A NP_001341233.1:p.Val245Glu