Canonical Allele Identifier: CA16020990
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1327550
ClinVar RCV Id: RCV001789812
dbSNP Id: rs199475659

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840414G>A , CM000674.2:g.102840414G>A GRCh38
NC_000012.11:g.103234192G>A , CM000674.1:g.103234192G>A GRCh37
NC_000012.10:g.101758322G>A NCBI36
NG_008690.1:g.82189C>T
NG_008690.2:g.122997C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1301C>T MANE Select ENSP00000448059.1:p.Ala434Val
ENST00000307000.7:c.1286C>T ENSP00000303500.2:p.Ala429Val
ENST00000551114.2:n.963C>T
ENST00000553106.5:c.1301C>T ENSP00000448059.1:p.Ala434Val
ENST00000635477.1:c.405C>T
ENST00000635528.1:n.816C>T
NM_000277.1:c.1301C>T NP_000268.1:p.Ala434Val
XM_011538422.1:c.1244C>T XP_011536724.1:p.Ala415Val
NM_000277.2:c.1301C>T NP_000268.1:p.Ala434Val
NM_001354304.1:c.1301C>T NP_001341233.1:p.Ala434Val
NM_000277.3:c.1301C>T MANE Select NP_000268.1:p.Ala434Val
NM_001354304.2:c.1301C>T NP_001341233.1:p.Ala434Val