Canonical Allele Identifier: CA2601918553

Gene: PAH

Linked Data

• gnomAD v3: 12-102851075-T-A
• gnomAD v4: 12-102851075-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851075T>A , CM000674.2:g.102851075T>A	GRCh38
NC_000012.11:g.103244853T>A , CM000674.1:g.103244853T>A	GRCh37
NC_000012.10:g.101768983T>A	NCBI36
NG_008690.1:g.71528A>T
NG_008690.2:g.112336A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+612A>T MANE Select	ENSP00000448059.1:n.912+612A>T
ENST00000307000.7:c.897+612A>T	ENSP00000303500.2:n.897+612A>T
ENST00000549247.6:n.671+612A>T
ENST00000551114.2:n.574+612A>T
ENST00000553106.5:c.912+612A>T	ENSP00000448059.1:n.912+612A>T
ENST00000635477.1:c.73+612A>T
NM_000277.1:c.912+612A>T	NP_000268.1:n.912+612A>T
XM_011538422.1:c.912+612A>T	XP_011536724.1:n.912+612A>T
NM_000277.2:c.912+612A>T	NP_000268.1:n.912+612A>T
NM_001354304.1:c.912+612A>T	NP_001341233.1:n.912+612A>T
NM_000277.3:c.912+612A>T MANE Select	NP_000268.1:n.912+612A>T
NM_001354304.2:c.912+612A>T	NP_001341233.1:n.912+612A>T