Canonical Allele Identifier: CA912973336
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103233022G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839244G>A , CM000674.2:g.102839244G>A GRCh38
NC_000012.11:g.103233022G>A , CM000674.1:g.103233022G>A GRCh37
NC_000012.10:g.101757152G>A NCBI36
NG_008690.1:g.83359C>T
NG_008690.2:g.124167C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316-26C>T MANE Select ENSP00000448059.1:n.1316-26C>T
ENST00000307000.7:c.1301-26C>T ENSP00000303500.2:n.1301-26C>T
ENST00000551114.2:n.978-26C>T
ENST00000553106.5:c.1316-26C>T ENSP00000448059.1:n.1316-26C>T
ENST00000635477.1:c.420-26C>T
ENST00000635528.1:n.831-26C>T
NM_000277.1:c.1316-26C>T NP_000268.1:n.1316-26C>T
XM_011538422.1:c.1259-26C>T XP_011536724.1:n.1259-26C>T
NM_000277.2:c.1316-26C>T NP_000268.1:n.1316-26C>T
NM_001354304.1:c.1316-26C>T NP_001341233.1:n.1316-26C>T
NM_000277.3:c.1316-26C>T MANE Select NP_000268.1:n.1316-26C>T
NM_001354304.2:c.1316-26C>T NP_001341233.1:n.1316-26C>T