Canonical Allele Identifier: CA951244814
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592979090
gnomAD v3: 12-102895005-G-T
gnomAD v4: 12-102895005-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895005G>T , CM000674.2:g.102895005G>T GRCh38
NC_000012.11:g.103288783G>T , CM000674.1:g.103288783G>T GRCh37
NC_000012.10:g.101812913G>T NCBI36
NG_008690.1:g.27598C>A
NG_008690.2:g.68406C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-87C>A MANE Select ENSP00000448059.1:n.169-87C>A
ENST00000307000.7:c.154-87C>A ENSP00000303500.2:n.154-87C>A
ENST00000546844.1:c.169-87C>A ENSP00000446658.1:n.169-87C>A
ENST00000548677.2:n.256-87C>A
ENST00000548928.1:n.91-87C>A
ENST00000549111.5:n.265-87C>A
ENST00000550978.6:c.153-87C>A
ENST00000551337.5:c.169-87C>A ENSP00000447620.1:n.169-87C>A
ENST00000551988.5:n.258-87C>A
ENST00000553106.5:c.169-87C>A ENSP00000448059.1:n.169-87C>A
ENST00000635500.1:n.137-87C>A
NM_000277.1:c.169-87C>A NP_000268.1:n.169-87C>A
XM_011538422.1:c.169-87C>A XP_011536724.1:n.169-87C>A
NM_000277.2:c.169-87C>A NP_000268.1:n.169-87C>A
NM_001354304.1:c.169-87C>A NP_001341233.1:n.169-87C>A
XM_017019370.2:c.169-87C>A XP_016874859.1:n.169-87C>A
NM_000277.3:c.169-87C>A MANE Select NP_000268.1:n.169-87C>A
NM_001354304.2:c.169-87C>A NP_001341233.1:n.169-87C>A
Search 100 bp 5'
Search 100 bp 3'