Canonical Allele Identifier: CA16020928

Gene: PAH

Linked Data

• ClinVar Variation Id: 1810386
• ClinVar RCV Id: RCV002509873
• ERepo: CA16020928/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843782G>C , CM000674.2:g.102843782G>C	GRCh38
NC_000012.11:g.103237560G>C , CM000674.1:g.103237560G>C	GRCh37
NC_000012.10:g.101761690G>C	NCBI36
NG_008690.1:g.78821C>G
NG_008690.2:g.119629C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1066-3C>G MANE Select	ENSP00000448059.1:n.1066-3C>G
ENST00000307000.7:c.1051-3C>G	ENSP00000303500.2:n.1051-3C>G
ENST00000549247.6:n.825-3C>G
ENST00000551114.2:n.728-3C>G
ENST00000553106.5:c.1066-3C>G	ENSP00000448059.1:n.1066-3C>G
ENST00000635477.1:c.170-3C>G
ENST00000635528.1:n.581-3C>G
NM_000277.1:c.1066-3C>G	NP_000268.1:n.1066-3C>G
XM_011538422.1:c.1009-3C>G	XP_011536724.1:n.1009-3C>G
NM_000277.2:c.1066-3C>G	NP_000268.1:n.1066-3C>G
NM_001354304.1:c.1066-3C>G	NP_001341233.1:n.1066-3C>G
NM_000277.3:c.1066-3C>G MANE Select	NP_000268.1:n.1066-3C>G
NM_001354304.2:c.1066-3C>G	NP_001341233.1:n.1066-3C>G