Canonical Allele Identifier: CA386493356
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843773A>T , CM000674.2:g.102843773A>T GRCh38
NC_000012.11:g.103237551A>T , CM000674.1:g.103237551A>T GRCh37
NC_000012.10:g.101761681A>T NCBI36
NG_008690.1:g.78830T>A
NG_008690.2:g.119638T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1072T>A MANE Select ENSP00000448059.1:p.Leu358Ile
ENST00000307000.7:c.1057T>A ENSP00000303500.2:p.Leu353Ile
ENST00000549247.6:n.831T>A
ENST00000551114.2:n.734T>A
ENST00000553106.5:c.1072T>A ENSP00000448059.1:p.Leu358Ile
ENST00000635477.1:c.176T>A
ENST00000635528.1:n.587T>A
NM_000277.1:c.1072T>A NP_000268.1:p.Leu358Ile
XM_011538422.1:c.1015T>A XP_011536724.1:p.Leu339Ile
NM_000277.2:c.1072T>A NP_000268.1:p.Leu358Ile
NM_001354304.1:c.1072T>A NP_001341233.1:p.Leu358Ile
NM_000277.3:c.1072T>A MANE Select NP_000268.1:p.Leu358Ile
NM_001354304.2:c.1072T>A NP_001341233.1:p.Leu358Ile