Canonical Allele Identifier: CA2575267221
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917216-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917216T>A , CM000674.2:g.102917216T>A GRCh38
NC_000012.11:g.103310994T>A , CM000674.1:g.103310994T>A GRCh37
NC_000012.10:g.101835124T>A NCBI36
NG_008690.1:g.5387A>T
NG_008690.2:g.46195A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-86A>T MANE Select ENSP00000448059.1:n.-86A>T
ENST00000307000.7:c.-233A>T ENSP00000303500.2:n.-233A>T
ENST00000546708.5:n.502A>T
ENST00000546844.1:c.-86A>T ENSP00000446658.1:n.-86A>T
ENST00000547319.1:n.226A>T
ENST00000549111.5:n.11A>T
ENST00000551337.5:c.-86A>T ENSP00000447620.1:n.-86A>T
ENST00000551988.5:n.4A>T
ENST00000553106.5:c.-86A>T ENSP00000448059.1:n.-86A>T
ENST00000635500.1:n.29-4318A>T
NM_000277.1:c.-86A>T NP_000268.1:n.-86A>T
XM_011538422.1:c.-86A>T XP_011536724.1:n.-86A>T
NM_000277.2:c.-86A>T NP_000268.1:n.-86A>T
NM_001354304.1:c.-86A>T NP_001341233.1:n.-86A>T
XM_017019370.2:c.-86A>T XP_016874859.1:n.-86A>T
NM_000277.3:c.-86A>T MANE Select NP_000268.1:n.-86A>T
NM_001354304.2:c.-86A>T NP_001341233.1:n.-86A>T
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