Canonical Allele Identifier: CA386296575
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1065380
ClinVar RCV Id: RCV001375898
dbSNP Id: rs2136649225

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855158T>G , CM000674.2:g.102855158T>G GRCh38
NC_000012.11:g.103248936T>G , CM000674.1:g.103248936T>G GRCh37
NC_000012.10:g.101773066T>G NCBI36
NG_008690.1:g.67445A>C
NG_008690.2:g.108253A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.684A>C MANE Select ENSP00000448059.1:p.Glu228Asp
ENST00000307000.7:c.669A>C ENSP00000303500.2:p.Glu223Asp
ENST00000549111.5:n.780A>C
ENST00000553106.5:c.684A>C ENSP00000448059.1:p.Glu228Asp
NM_000277.1:c.684A>C NP_000268.1:p.Glu228Asp
XM_011538422.1:c.684A>C XP_011536724.1:p.Glu228Asp
NM_000277.2:c.684A>C NP_000268.1:p.Glu228Asp
NM_001354304.1:c.684A>C NP_001341233.1:p.Glu228Asp
XM_017019370.2:c.684A>C XP_016874859.1:p.Glu228Asp
NM_000277.3:c.684A>C MANE Select NP_000268.1:p.Glu228Asp
NM_001354304.2:c.684A>C NP_001341233.1:p.Glu228Asp