Canonical Allele Identifier: CA242470001
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs969543144

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851293C>A , CM000674.2:g.102851293C>A GRCh38
NC_000012.11:g.103245071C>A , CM000674.1:g.103245071C>A GRCh37
NC_000012.10:g.101769201C>A NCBI36
NG_008690.1:g.71310G>T
NG_008690.2:g.112118G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+394G>T MANE Select ENSP00000448059.1:n.912+394G>T
ENST00000307000.7:c.897+394G>T ENSP00000303500.2:n.897+394G>T
ENST00000549247.6:n.671+394G>T
ENST00000551114.2:n.574+394G>T
ENST00000553106.5:c.912+394G>T ENSP00000448059.1:n.912+394G>T
ENST00000635477.1:c.73+394G>T
NM_000277.1:c.912+394G>T NP_000268.1:n.912+394G>T
XM_011538422.1:c.912+394G>T XP_011536724.1:n.912+394G>T
NM_000277.2:c.912+394G>T NP_000268.1:n.912+394G>T
NM_001354304.1:c.912+394G>T NP_001341233.1:n.912+394G>T
NM_000277.3:c.912+394G>T MANE Select NP_000268.1:n.912+394G>T
NM_001354304.2:c.912+394G>T NP_001341233.1:n.912+394G>T