Canonical Allele Identifier: CA6748841
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs199475675

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852856C>A , CM000674.2:g.102852856C>A GRCh38
NC_000012.11:g.103246634C>A , CM000674.1:g.103246634C>A GRCh37
NC_000012.10:g.101770764C>A NCBI36
NG_008690.1:g.69747G>T
NG_008690.2:g.110555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.801G>T MANE Select ENSP00000448059.1:p.Gln267His
ENST00000307000.7:c.786G>T ENSP00000303500.2:p.Gln262His
ENST00000549247.6:n.560G>T
ENST00000553106.5:c.801G>T ENSP00000448059.1:p.Gln267His
NM_000277.1:c.801G>T NP_000268.1:p.Gln267His
XM_011538422.1:c.801G>T XP_011536724.1:p.Gln267His
NM_000277.2:c.801G>T NP_000268.1:p.Gln267His
NM_001354304.1:c.801G>T NP_001341233.1:p.Gln267His
NM_000277.3:c.801G>T MANE Select NP_000268.1:p.Gln267His
NM_001354304.2:c.801G>T NP_001341233.1:p.Gln267His