Canonical Allele Identifier: CA2059467341
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894972C= , CM000674.2:g.102894972C= GRCh38
NC_000012.11:g.103288750C= , CM000674.1:g.103288750C= GRCh37
NC_000012.10:g.101812880C= NCBI36
NG_008690.1:g.27631G=
NG_008690.2:g.68439G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-54G= MANE Select ENSP00000448059.1:n.169-54G=
ENST00000307000.7:c.154-54G= ENSP00000303500.2:n.154-54G=
ENST00000546844.1:c.169-54G= ENSP00000446658.1:n.169-54G=
ENST00000548677.2:n.256-54G=
ENST00000548928.1:n.91-54G=
ENST00000549111.5:n.265-54G=
ENST00000550978.6:c.153-54G=
ENST00000551337.5:c.169-54G= ENSP00000447620.1:n.169-54G=
ENST00000551988.5:n.258-54G=
ENST00000553106.5:c.169-54G= ENSP00000448059.1:n.169-54G=
ENST00000635500.1:n.137-54G=
NM_000277.1:c.169-54G= NP_000268.1:n.169-54G=
XM_011538422.1:c.169-54G= XP_011536724.1:n.169-54G=
NM_000277.2:c.169-54G= NP_000268.1:n.169-54G=
NM_001354304.1:c.169-54G= NP_001341233.1:n.169-54G=
XM_017019370.2:c.169-54G= XP_016874859.1:n.169-54G=
NM_000277.3:c.169-54G= MANE Select NP_000268.1:n.169-54G=
NM_001354304.2:c.169-54G= NP_001341233.1:n.169-54G=
Search 100 bp 5'
Search 100 bp 3'