Canonical Allele Identifier: CA114368
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 627
dbSNP Id: rs62517167

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894794A>G , CM000674.2:g.102894794A>G GRCh38
NC_000012.11:g.103288572A>G , CM000674.1:g.103288572A>G GRCh37
NC_000012.10:g.101812702A>G NCBI36
NG_008690.1:g.27809T>C
NG_008690.2:g.68617T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.293T>C MANE Select ENSP00000448059.1:p.Leu98Ser
ENST00000307000.7:c.278T>C ENSP00000303500.2:p.Leu93Ser
ENST00000546844.1:c.293T>C ENSP00000446658.1:p.Leu98Ser
ENST00000548928.1:n.215T>C
ENST00000549111.5:n.389T>C
ENST00000550978.6:c.277T>C
ENST00000551337.5:c.293T>C ENSP00000447620.1:p.Leu98Ser
ENST00000551988.5:n.382T>C
ENST00000553106.5:c.293T>C ENSP00000448059.1:p.Leu98Ser
NM_000277.1:c.293T>C NP_000268.1:p.Leu98Ser
XM_011538422.1:c.293T>C XP_011536724.1:p.Leu98Ser
NM_000277.2:c.293T>C NP_000268.1:p.Leu98Ser
NM_001354304.1:c.293T>C NP_001341233.1:p.Leu98Ser
XM_017019370.2:c.293T>C XP_016874859.1:p.Leu98Ser
NM_000277.3:c.293T>C MANE Select NP_000268.1:p.Leu98Ser
NM_001354304.2:c.293T>C NP_001341233.1:p.Leu98Ser