Canonical Allele Identifier: CA386492929
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840408G>T , CM000674.2:g.102840408G>T GRCh38
NC_000012.11:g.103234186G>T , CM000674.1:g.103234186G>T GRCh37
NC_000012.10:g.101758316G>T NCBI36
NG_008690.1:g.82195C>A
NG_008690.2:g.123003C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1307C>A MANE Select ENSP00000448059.1:p.Ser436Tyr
ENST00000307000.7:c.1292C>A ENSP00000303500.2:p.Ser431Tyr
ENST00000551114.2:n.969C>A
ENST00000553106.5:c.1307C>A ENSP00000448059.1:p.Ser436Tyr
ENST00000635477.1:n.411C>A
ENST00000635528.1:n.822C>A
NM_000277.1:c.1307C>A NP_000268.1:p.Ser436Tyr
XM_011538422.1:c.1250C>A XP_011536724.1:p.Ser417Tyr
NM_000277.2:c.1307C>A NP_000268.1:p.Ser436Tyr
NM_001354304.1:c.1307C>A NP_001341233.1:p.Ser436Tyr
NM_000277.3:c.1307C>A MANE Select NP_000268.1:p.Ser436Tyr
NM_001354304.2:c.1307C>A NP_001341233.1:p.Ser436Tyr