Canonical Allele Identifier: CA2620525848

Gene: PAH

Linked Data

• gnomAD v4: 12-102854933-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102854933T>C , CM000674.2:g.102854933T>C	GRCh38
NC_000012.11:g.103248711T>C , CM000674.1:g.103248711T>C	GRCh37
NC_000012.10:g.101772841T>C	NCBI36
NG_008690.1:g.67670A>G
NG_008690.2:g.108478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+203A>G MANE Select	ENSP00000448059.1:n.706+203A>G
ENST00000307000.7:c.691+203A>G	ENSP00000303500.2:n.691+203A>G
ENST00000549111.5:n.1005A>G
ENST00000553106.5:c.706+203A>G	ENSP00000448059.1:n.706+203A>G
NM_000277.1:c.706+203A>G	NP_000268.1:n.706+203A>G
XM_011538422.1:c.706+203A>G	XP_011536724.1:n.706+203A>G
NM_000277.2:c.706+203A>G	NP_000268.1:n.706+203A>G
NM_001354304.1:c.706+203A>G	NP_001341233.1:n.706+203A>G
XM_017019370.2:c.707-132A>G	XP_016874859.1:n.707-132A>G
NM_000277.3:c.706+203A>G MANE Select	NP_000268.1:n.706+203A>G
NM_001354304.2:c.706+203A>G	NP_001341233.1:n.706+203A>G