Canonical Allele Identifier: CA2059446239
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852843C= , CM000674.2:g.102852843C= GRCh38
NC_000012.11:g.103246621C= , CM000674.1:g.103246621C= GRCh37
NC_000012.10:g.101770751C= NCBI36
NG_008690.1:g.69760G=
NG_008690.2:g.110568G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.814G= MANE Select ENSP00000448059.1:p.Gly272=
ENST00000307000.7:c.799G= ENSP00000303500.2:p.Gly267=
ENST00000549247.6:n.573G=
ENST00000553106.5:c.814G= ENSP00000448059.1:p.Gly272=
NM_000277.1:c.814G= NP_000268.1:p.Gly272=
XM_011538422.1:c.814G= XP_011536724.1:p.Gly272=
NM_000277.2:c.814G= NP_000268.1:p.Gly272=
NM_001354304.1:c.814G= NP_001341233.1:p.Gly272=
NM_000277.3:c.814G= MANE Select NP_000268.1:p.Gly272=
NM_001354304.2:c.814G= NP_001341233.1:p.Gly272=