Canonical Allele Identifier: CA242743409
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs989098970

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840400T>C , CM000674.2:g.102840400T>C GRCh38
NC_000012.11:g.103234178T>C , CM000674.1:g.103234178T>C GRCh37
NC_000012.10:g.101758308T>C NCBI36
NG_008690.1:g.82203A>G
NG_008690.2:g.123011A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315A>G MANE Select ENSP00000448059.1:p.Ser439Gly
ENST00000307000.7:c.1300A>G ENSP00000303500.2:p.Ser434Gly
ENST00000551114.2:n.977A>G
ENST00000553106.5:c.1315A>G ENSP00000448059.1:p.Ser439Gly
ENST00000635477.1:n.419A>G
ENST00000635528.1:n.830A>G
NM_000277.1:c.1315A>G NP_000268.1:p.Ser439Gly
XM_011538422.1:c.1258A>G XP_011536724.1:p.Ser420Gly
NM_000277.2:c.1315A>G NP_000268.1:p.Ser439Gly
NM_001354304.1:c.1315A>G NP_001341233.1:p.Ser439Gly
NM_000277.3:c.1315A>G MANE Select NP_000268.1:p.Ser439Gly
NM_001354304.2:c.1315A>G NP_001341233.1:p.Ser439Gly