Canonical Allele Identifier: CA251539
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 608
dbSNP Id: rs5030841

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912816A>G , CM000674.2:g.102912816A>G GRCh38
NC_000012.11:g.103306594A>G , CM000674.1:g.103306594A>G GRCh37
NC_000012.10:g.101830724A>G NCBI36
NG_008690.1:g.9787T>C
NG_008690.2:g.50595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.143T>C MANE Select ENSP00000448059.1:p.Leu48Ser
ENST00000307000.7:c.128T>C ENSP00000303500.2:p.Leu43Ser
ENST00000546844.1:c.143T>C ENSP00000446658.1:p.Leu48Ser
ENST00000548677.2:n.230T>C
ENST00000548928.1:n.65T>C
ENST00000549111.5:n.239T>C
ENST00000550978.6:c.127T>C
ENST00000551337.5:c.143T>C ENSP00000447620.1:p.Leu48Ser
ENST00000551988.5:n.232T>C
ENST00000553106.5:c.143T>C ENSP00000448059.1:p.Leu48Ser
ENST00000635500.1:n.111T>C
NM_000277.1:c.143T>C NP_000268.1:p.Leu48Ser
XM_011538422.1:c.143T>C XP_011536724.1:p.Leu48Ser
NM_000277.2:c.143T>C NP_000268.1:p.Leu48Ser
NM_001354304.1:c.143T>C NP_001341233.1:p.Leu48Ser
XM_017019370.2:c.143T>C XP_016874859.1:p.Leu48Ser
NM_000277.3:c.143T>C MANE Select NP_000268.1:p.Leu48Ser
NM_001354304.2:c.143T>C NP_001341233.1:p.Leu48Ser