Canonical Allele Identifier: CA386493373
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844336C>A , CM000674.2:g.102844336C>A GRCh38
NC_000012.11:g.103238114C>A , CM000674.1:g.103238114C>A GRCh37
NC_000012.10:g.101762244C>A NCBI36
NG_008690.1:g.78267G>T
NG_008690.2:g.119075G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1065G>T MANE Select ENSP00000448059.1:p.Gln355His
ENST00000307000.7:c.1050G>T ENSP00000303500.2:p.Gln350His
ENST00000549247.6:n.824G>T
ENST00000551114.2:n.727G>T
ENST00000553106.5:c.1065G>T ENSP00000448059.1:p.Gln355His
ENST00000635477.1:c.169G>T
ENST00000635528.1:n.580G>T
NM_000277.1:c.1065G>T NP_000268.1:p.Gln355His
XM_011538422.1:c.1008G>T XP_011536724.1:p.Gln336His
NM_000277.2:c.1065G>T NP_000268.1:p.Gln355His
NM_001354304.1:c.1065G>T NP_001341233.1:p.Gln355His
NM_000277.3:c.1065G>T MANE Select NP_000268.1:p.Gln355His
NM_001354304.2:c.1065G>T NP_001341233.1:p.Gln355His