Canonical Allele Identifier: CA386296933
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103249076C>A (hg19) chr12:g.102855298C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855298C>A , CM000674.2:g.102855298C>A GRCh38
NC_000012.11:g.103249076C>A , CM000674.1:g.103249076C>A GRCh37
NC_000012.10:g.101773206C>A NCBI36
NG_008690.1:g.67305G>T
NG_008690.2:g.108113G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.544G>T MANE Select ENSP00000448059.1:p.Glu182Ter
ENST00000307000.7:c.529G>T ENSP00000303500.2:p.Glu177Ter
ENST00000549111.5:n.640G>T
ENST00000551988.5:n.565G>T
ENST00000553106.5:c.544G>T ENSP00000448059.1:p.Glu182Ter
NM_000277.1:c.544G>T NP_000268.1:p.Glu182Ter
XM_011538422.1:c.544G>T XP_011536724.1:p.Glu182Ter
NM_000277.2:c.544G>T NP_000268.1:p.Glu182Ter
NM_001354304.1:c.544G>T NP_001341233.1:p.Glu182Ter
XM_017019370.2:c.544G>T XP_016874859.1:p.Glu182Ter
NM_000277.3:c.544G>T MANE Select NP_000268.1:p.Glu182Ter
NM_001354304.2:c.544G>T NP_001341233.1:p.Glu182Ter
Search 100 bp 5'
Search 100 bp 3'