Canonical Allele Identifier: CA273357
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102803
dbSNP Id: rs76687508

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852936G>A , CM000674.2:g.102852936G>A GRCh38
NC_000012.11:g.103246714G>A , CM000674.1:g.103246714G>A GRCh37
NC_000012.10:g.101770844G>A NCBI36
NG_008690.1:g.69667C>T
NG_008690.2:g.110475C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.721C>T MANE Select ENSP00000448059.1:p.Arg241Cys
ENST00000307000.7:c.706C>T ENSP00000303500.2:p.Arg236Cys
ENST00000549247.6:n.480C>T
ENST00000553106.5:c.721C>T ENSP00000448059.1:p.Arg241Cys
NM_000277.1:c.721C>T NP_000268.1:p.Arg241Cys
XM_011538422.1:c.721C>T XP_011536724.1:p.Arg241Cys
NM_000277.2:c.721C>T NP_000268.1:p.Arg241Cys
NM_001354304.1:c.721C>T NP_001341233.1:p.Arg241Cys
NM_000277.3:c.721C>T MANE Select NP_000268.1:p.Arg241Cys
NM_001354304.2:c.721C>T NP_001341233.1:p.Arg241Cys