Canonical Allele Identifier: CA386493389

Gene: PAH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1058A>T MANE Select	ENSP00000448059.1:p.Glu353Val
ENST00000307000.7:c.1043A>T	ENSP00000303500.2:p.Glu348Val
ENST00000549247.6:n.817A>T
ENST00000551114.2:n.720A>T
ENST00000553106.5:c.1058A>T	ENSP00000448059.1:p.Glu353Val
ENST00000635477.1:c.162A>T
ENST00000635528.1:n.573A>T
NM_000277.1:c.1058A>T	NP_000268.1:p.Glu353Val
XM_011538422.1:c.1001A>T	XP_011536724.1:p.Glu334Val
NM_000277.2:c.1058A>T	NP_000268.1:p.Glu353Val
NM_001354304.1:c.1058A>T	NP_001341233.1:p.Glu353Val
NM_000277.3:c.1058A>T MANE Select	NP_000268.1:p.Glu353Val
NM_001354304.2:c.1058A>T	NP_001341233.1:p.Glu353Val