Canonical Allele Identifier: CA2620510399

Gene: PAH

Linked Data

• gnomAD v4: 12-102917196-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917196G>C , CM000674.2:g.102917196G>C	GRCh38
NC_000012.11:g.103310974G>C , CM000674.1:g.103310974G>C	GRCh37
NC_000012.10:g.101835104G>C	NCBI36
NG_008690.1:g.5407C>G
NG_008690.2:g.46215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-66C>G MANE Select	ENSP00000448059.1:n.-66C>G
ENST00000307000.7:c.-213C>G	ENSP00000303500.2:n.-213C>G
ENST00000546708.5:n.522C>G
ENST00000546844.1:c.-66C>G	ENSP00000446658.1:n.-66C>G
ENST00000547319.1:n.246C>G
ENST00000549111.5:n.31C>G
ENST00000551337.5:c.-66C>G	ENSP00000447620.1:n.-66C>G
ENST00000551988.5:n.24C>G
ENST00000553106.5:c.-66C>G	ENSP00000448059.1:n.-66C>G
ENST00000635500.1:n.29-4298C>G
NM_000277.1:c.-66C>G	NP_000268.1:n.-66C>G
XM_011538422.1:c.-66C>G	XP_011536724.1:n.-66C>G
NM_000277.2:c.-66C>G	NP_000268.1:n.-66C>G
NM_001354304.1:c.-66C>G	NP_001341233.1:n.-66C>G
XM_017019370.2:c.-66C>G	XP_016874859.1:n.-66C>G
NM_000277.3:c.-66C>G MANE Select	NP_000268.1:n.-66C>G
NM_001354304.2:c.-66C>G	NP_001341233.1:n.-66C>G