Canonical Allele Identifier: CA229481
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102625
dbSNP Id: rs5030842

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894888A>G , CM000674.2:g.102894888A>G GRCh38
NC_000012.11:g.103288666A>G , CM000674.1:g.103288666A>G GRCh37
NC_000012.10:g.101812796A>G NCBI36
NG_008690.1:g.27715T>C
NG_008690.2:g.68523T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.199T>C MANE Select ENSP00000448059.1:p.Ser67Pro
ENST00000307000.7:c.184T>C ENSP00000303500.2:p.Ser62Pro
ENST00000546844.1:c.199T>C ENSP00000446658.1:p.Ser67Pro
ENST00000548677.2:n.286T>C
ENST00000548928.1:n.121T>C
ENST00000549111.5:n.295T>C
ENST00000550978.6:c.183T>C
ENST00000551337.5:c.199T>C ENSP00000447620.1:p.Ser67Pro
ENST00000551988.5:n.288T>C
ENST00000553106.5:c.199T>C ENSP00000448059.1:p.Ser67Pro
ENST00000635500.1:n.167T>C
NM_000277.1:c.199T>C NP_000268.1:p.Ser67Pro
XM_011538422.1:c.199T>C XP_011536724.1:p.Ser67Pro
NM_000277.2:c.199T>C NP_000268.1:p.Ser67Pro
NM_001354304.1:c.199T>C NP_001341233.1:p.Ser67Pro
XM_017019370.2:c.199T>C XP_016874859.1:p.Ser67Pro
NM_000277.3:c.199T>C MANE Select NP_000268.1:p.Ser67Pro
NM_001354304.2:c.199T>C NP_001341233.1:p.Ser67Pro