Canonical Allele Identifier: CA6748787
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs61747292

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846901G>C , CM000674.2:g.102846901G>C GRCh38
NC_000012.11:g.103240679G>C , CM000674.1:g.103240679G>C GRCh37
NC_000012.10:g.101764809G>C NCBI36
NG_008690.1:g.75702C>G
NG_008690.2:g.116510C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.963C>G MANE Select ENSP00000448059.1:p.Leu321=
ENST00000307000.7:c.948C>G ENSP00000303500.2:p.Leu316=
ENST00000549247.6:n.722C>G
ENST00000551114.2:n.625C>G
ENST00000553106.5:c.963C>G ENSP00000448059.1:p.Leu321=
ENST00000635477.1:n.74-2470C>G
ENST00000635528.1:n.478C>G
NM_000277.1:c.963C>G NP_000268.1:p.Leu321=
XM_011538422.1:c.913-2470C>G XP_011536724.1:n.913-2470C>G
NM_000277.2:c.963C>G NP_000268.1:p.Leu321=
NM_001354304.1:c.963C>G NP_001341233.1:p.Leu321=
NM_000277.3:c.963C>G MANE Select NP_000268.1:p.Leu321=
NM_001354304.2:c.963C>G NP_001341233.1:p.Leu321=