Canonical Allele Identifier: CA481331585
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246727A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852949A>T , CM000674.2:g.102852949A>T GRCh38
NC_000012.11:g.103246727A>T , CM000674.1:g.103246727A>T GRCh37
NC_000012.10:g.101770857A>T NCBI36
NG_008690.1:g.69654T>A
NG_008690.2:g.110462T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.708T>A MANE Select ENSP00000448059.1:p.Thr236=
ENST00000307000.7:c.693T>A ENSP00000303500.2:p.Thr231=
ENST00000549247.6:n.467T>A
ENST00000553106.5:c.708T>A ENSP00000448059.1:p.Thr236=
NM_000277.1:c.708T>A NP_000268.1:p.Thr236=
XM_011538422.1:c.708T>A XP_011536724.1:p.Thr236=
NM_000277.2:c.708T>A NP_000268.1:p.Thr236=
NM_001354304.1:c.708T>A NP_001341233.1:p.Thr236=
NM_000277.3:c.708T>A MANE Select NP_000268.1:p.Thr236=
NM_001354304.2:c.708T>A NP_001341233.1:p.Thr236=