Canonical Allele Identifier: CA2059445888
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852775C= , CM000674.2:g.102852775C= GRCh38
NC_000012.11:g.103246553C= , CM000674.1:g.103246553C= GRCh37
NC_000012.10:g.101770683C= NCBI36
NG_008690.1:g.69828G=
NG_008690.2:g.110636G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.842+40G= MANE Select ENSP00000448059.1:n.842+40G=
ENST00000307000.7:c.827+40G= ENSP00000303500.2:n.827+40G=
ENST00000549247.6:n.601+40G=
ENST00000553106.5:c.842+40G= ENSP00000448059.1:n.842+40G=
ENST00000635477.1:c.3+40G=
NM_000277.1:c.842+40G= NP_000268.1:n.842+40G=
XM_011538422.1:c.842+40G= XP_011536724.1:n.842+40G=
NM_000277.2:c.842+40G= NP_000268.1:n.842+40G=
NM_001354304.1:c.842+40G= NP_001341233.1:n.842+40G=
NM_000277.3:c.842+40G= MANE Select NP_000268.1:n.842+40G=
NM_001354304.2:c.842+40G= NP_001341233.1:n.842+40G=