Canonical Allele Identifier: CA16020750
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 619158
ClinVar RCV Id: RCV000758118
dbSNP Id: rs1565866547

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894863T>C , CM000674.2:g.102894863T>C GRCh38
NC_000012.11:g.103288641T>C , CM000674.1:g.103288641T>C GRCh37
NC_000012.10:g.101812771T>C NCBI36
NG_008690.1:g.27740A>G
NG_008690.2:g.68548A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.224A>G MANE Select ENSP00000448059.1:p.Asp75Gly
ENST00000307000.7:c.209A>G ENSP00000303500.2:p.Asp70Gly
ENST00000546844.1:c.224A>G ENSP00000446658.1:p.Asp75Gly
ENST00000548677.2:n.311A>G
ENST00000548928.1:n.146A>G
ENST00000549111.5:n.320A>G
ENST00000550978.6:c.208A>G
ENST00000551337.5:c.224A>G ENSP00000447620.1:p.Asp75Gly
ENST00000551988.5:n.313A>G
ENST00000553106.5:c.224A>G ENSP00000448059.1:p.Asp75Gly
NM_000277.1:c.224A>G NP_000268.1:p.Asp75Gly
XM_011538422.1:c.224A>G XP_011536724.1:p.Asp75Gly
NM_000277.2:c.224A>G NP_000268.1:p.Asp75Gly
NM_001354304.1:c.224A>G NP_001341233.1:p.Asp75Gly
XM_017019370.2:c.224A>G XP_016874859.1:p.Asp75Gly
NM_000277.3:c.224A>G MANE Select NP_000268.1:p.Asp75Gly
NM_001354304.2:c.224A>G NP_001341233.1:p.Asp75Gly