Canonical Allele Identifier: CA2620525890

Gene: PAH

Linked Data

• gnomAD v4: 12-102854956-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102854956G>A , CM000674.2:g.102854956G>A	GRCh38
NC_000012.11:g.103248734G>A , CM000674.1:g.103248734G>A	GRCh37
NC_000012.10:g.101772864G>A	NCBI36
NG_008690.1:g.67647C>T
NG_008690.2:g.108455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+180C>T MANE Select	ENSP00000448059.1:n.706+180C>T
ENST00000307000.7:c.691+180C>T	ENSP00000303500.2:n.691+180C>T
ENST00000549111.5:n.982C>T
ENST00000553106.5:c.706+180C>T	ENSP00000448059.1:n.706+180C>T
NM_000277.1:c.706+180C>T	NP_000268.1:n.706+180C>T
XM_011538422.1:c.706+180C>T	XP_011536724.1:n.706+180C>T
NM_000277.2:c.706+180C>T	NP_000268.1:n.706+180C>T
NM_001354304.1:c.706+180C>T	NP_001341233.1:n.706+180C>T
XM_017019370.2:c.707-155C>T	XP_016874859.1:n.707-155C>T
NM_000277.3:c.706+180C>T MANE Select	NP_000268.1:n.706+180C>T
NM_001354304.2:c.706+180C>T	NP_001341233.1:n.706+180C>T