Canonical Allele Identifier: CA386493494

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238190T>G (hg19) ; chr12:g.102844412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844412T>G , CM000674.2:g.102844412T>G	GRCh38
NC_000012.11:g.103238190T>G , CM000674.1:g.103238190T>G	GRCh37
NC_000012.10:g.101762320T>G	NCBI36
NG_008690.1:g.78191A>C
NG_008690.2:g.118999A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.989A>C MANE Select	ENSP00000448059.1:p.Glu330Ala
ENST00000307000.7:c.974A>C	ENSP00000303500.2:p.Glu325Ala
ENST00000549247.6:n.748A>C
ENST00000551114.2:n.651A>C
ENST00000553106.5:c.989A>C	ENSP00000448059.1:p.Glu330Ala
ENST00000635477.1:c.93A>C
ENST00000635528.1:n.504A>C
NM_000277.1:c.989A>C	NP_000268.1:p.Glu330Ala
XM_011538422.1:c.932A>C	XP_011536724.1:p.Glu311Ala
NM_000277.2:c.989A>C	NP_000268.1:p.Glu330Ala
NM_001354304.1:c.989A>C	NP_001341233.1:p.Glu330Ala
NM_000277.3:c.989A>C MANE Select	NP_000268.1:p.Glu330Ala
NM_001354304.2:c.989A>C	NP_001341233.1:p.Glu330Ala