Canonical Allele Identifier: CA386296600
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1496717
ClinVar RCV Id: RCV001992017
dbSNP Id: rs1263259211

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855176A>C , CM000674.2:g.102855176A>C GRCh38
NC_000012.11:g.103248954A>C , CM000674.1:g.103248954A>C GRCh37
NC_000012.10:g.101773084A>C NCBI36
NG_008690.1:g.67427T>G
NG_008690.2:g.108235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.666T>G MANE Select ENSP00000448059.1:p.Asp222Glu
ENST00000307000.7:c.651T>G ENSP00000303500.2:p.Asp217Glu
ENST00000549111.5:n.762T>G
ENST00000553106.5:c.666T>G ENSP00000448059.1:p.Asp222Glu
NM_000277.1:c.666T>G NP_000268.1:p.Asp222Glu
XM_011538422.1:c.666T>G XP_011536724.1:p.Asp222Glu
NM_000277.2:c.666T>G NP_000268.1:p.Asp222Glu
NM_001354304.1:c.666T>G NP_001341233.1:p.Asp222Glu
XM_017019370.2:c.666T>G XP_016874859.1:p.Asp222Glu
NM_000277.3:c.666T>G MANE Select NP_000268.1:p.Asp222Glu
NM_001354304.2:c.666T>G NP_001341233.1:p.Asp222Glu