Canonical Allele Identifier: CA386493390

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238121T>C (hg19) ; chr12:g.102844343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844343T>C , CM000674.2:g.102844343T>C	GRCh38
NC_000012.11:g.103238121T>C , CM000674.1:g.103238121T>C	GRCh37
NC_000012.10:g.101762251T>C	NCBI36
NG_008690.1:g.78260A>G
NG_008690.2:g.119068A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1058A>G MANE Select	ENSP00000448059.1:p.Glu353Gly
ENST00000307000.7:c.1043A>G	ENSP00000303500.2:p.Glu348Gly
ENST00000549247.6:n.817A>G
ENST00000551114.2:n.720A>G
ENST00000553106.5:c.1058A>G	ENSP00000448059.1:p.Glu353Gly
ENST00000635477.1:c.162A>G
ENST00000635528.1:n.573A>G
NM_000277.1:c.1058A>G	NP_000268.1:p.Glu353Gly
XM_011538422.1:c.1001A>G	XP_011536724.1:p.Glu334Gly
NM_000277.2:c.1058A>G	NP_000268.1:p.Glu353Gly
NM_001354304.1:c.1058A>G	NP_001341233.1:p.Glu353Gly
NM_000277.3:c.1058A>G MANE Select	NP_000268.1:p.Glu353Gly
NM_001354304.2:c.1058A>G	NP_001341233.1:p.Glu353Gly