Canonical Allele Identifier: CA229402
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 635
dbSNP Id: rs62644473

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840495G>A , CM000674.2:g.102840495G>A GRCh38
NC_000012.11:g.103234273G>A , CM000674.1:g.103234273G>A GRCh37
NC_000012.10:g.101758403G>A NCBI36
NG_008690.1:g.82108C>T
NG_008690.2:g.122916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1220C>T MANE Select ENSP00000448059.1:p.Pro407Leu
ENST00000307000.7:c.1205C>T ENSP00000303500.2:p.Pro402Leu
ENST00000551114.2:n.882C>T
ENST00000553106.5:c.1220C>T ENSP00000448059.1:p.Pro407Leu
ENST00000635477.1:c.324C>T
ENST00000635528.1:n.735C>T
NM_000277.1:c.1220C>T NP_000268.1:p.Pro407Leu
XM_011538422.1:c.1163C>T XP_011536724.1:p.Pro388Leu
NM_000277.2:c.1220C>T NP_000268.1:p.Pro407Leu
NM_001354304.1:c.1220C>T NP_001341233.1:p.Pro407Leu
NM_000277.3:c.1220C>T MANE Select NP_000268.1:p.Pro407Leu
NM_001354304.2:c.1220C>T NP_001341233.1:p.Pro407Leu