Canonical Allele Identifier: CA2739277288

Gene: PAH

Linked Data

• ClinVar Variation Id: 2803858
• ClinVar RCV Id: RCV003598902

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866677G>C , CM000674.2:g.102866677G>C	GRCh38
NC_000012.11:g.103260455G>C , CM000674.1:g.103260455G>C	GRCh37
NC_000012.10:g.101784585G>C	NCBI36
NG_008690.1:g.55926C>G
NG_008690.2:g.96734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.442-14C>G MANE Select	ENSP00000448059.1:n.442-14C>G
ENST00000307000.7:c.427-14C>G	ENSP00000303500.2:n.427-14C>G
ENST00000549111.5:n.538-14C>G
ENST00000551988.5:n.530+10785C>G
ENST00000553106.5:c.442-14C>G	ENSP00000448059.1:n.442-14C>G
NM_000277.1:c.442-14C>G	NP_000268.1:n.442-14C>G
XM_011538422.1:c.442-14C>G	XP_011536724.1:n.442-14C>G
NM_000277.2:c.442-14C>G	NP_000268.1:n.442-14C>G
NM_001354304.1:c.442-14C>G	NP_001341233.1:n.442-14C>G
XM_017019370.2:c.442-14C>G	XP_016874859.1:n.442-14C>G
NM_000277.3:c.442-14C>G MANE Select	NP_000268.1:n.442-14C>G
NM_001354304.2:c.442-14C>G	NP_001341233.1:n.442-14C>G