Canonical Allele Identifier: CA2059456721
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875942303
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866066C>T , CM000674.2:g.102866066C>T GRCh38
NC_000012.11:g.103259844C>T , CM000674.1:g.103259844C>T GRCh37
NC_000012.10:g.101783974C>T NCBI36
NG_008690.1:g.56537G>A
NG_008690.2:g.97345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+530G>A MANE Select ENSP00000448059.1:n.509+530G>A
ENST00000307000.7:c.494+530G>A ENSP00000303500.2:n.494+530G>A
ENST00000549111.5:n.605+530G>A
ENST00000551988.5:n.531-10734G>A
ENST00000553106.5:c.509+530G>A ENSP00000448059.1:n.509+530G>A
NM_000277.1:c.509+530G>A NP_000268.1:n.509+530G>A
XM_011538422.1:c.509+530G>A XP_011536724.1:n.509+530G>A
NM_000277.2:c.509+530G>A NP_000268.1:n.509+530G>A
NM_001354304.1:c.509+530G>A NP_001341233.1:n.509+530G>A
XM_017019370.2:c.509+530G>A XP_016874859.1:n.509+530G>A
NM_000277.3:c.509+530G>A MANE Select NP_000268.1:n.509+530G>A
NM_001354304.2:c.509+530G>A NP_001341233.1:n.509+530G>A
Search 100 bp 5'
Search 100 bp 3'