Canonical Allele Identifier: CA114370
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 630
dbSNP Id: rs118203925

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912819G>A , CM000674.2:g.102912819G>A GRCh38
NC_000012.11:g.103306597G>A , CM000674.1:g.103306597G>A GRCh37
NC_000012.10:g.101830727G>A NCBI36
NG_008690.1:g.9784C>T
NG_008690.2:g.50592C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.140C>T MANE Select ENSP00000448059.1:p.Ala47Val
ENST00000307000.7:c.125C>T ENSP00000303500.2:p.Ala42Val
ENST00000546844.1:c.140C>T ENSP00000446658.1:p.Ala47Val
ENST00000548677.2:n.227C>T
ENST00000548928.1:n.62C>T
ENST00000549111.5:n.236C>T
ENST00000550978.6:c.124C>T
ENST00000551337.5:c.140C>T ENSP00000447620.1:p.Ala47Val
ENST00000551988.5:n.229C>T
ENST00000553106.5:c.140C>T ENSP00000448059.1:p.Ala47Val
ENST00000635500.1:n.108C>T
NM_000277.1:c.140C>T NP_000268.1:p.Ala47Val
XM_011538422.1:c.140C>T XP_011536724.1:p.Ala47Val
NM_000277.2:c.140C>T NP_000268.1:p.Ala47Val
NM_001354304.1:c.140C>T NP_001341233.1:p.Ala47Val
XM_017019370.2:c.140C>T XP_016874859.1:p.Ala47Val
NM_000277.3:c.140C>T MANE Select NP_000268.1:p.Ala47Val
NM_001354304.2:c.140C>T NP_001341233.1:p.Ala47Val