Canonical Allele Identifier: CA386291583

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103240687C>T (hg19) ; chr12:g.102846909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846909C>T , CM000674.2:g.102846909C>T	GRCh38
NC_000012.11:g.103240687C>T , CM000674.1:g.103240687C>T	GRCh37
NC_000012.10:g.101764817C>T	NCBI36
NG_008690.1:g.75694G>A
NG_008690.2:g.116502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.955G>A MANE Select	ENSP00000448059.1:p.Glu319Lys
ENST00000307000.7:c.940G>A	ENSP00000303500.2:p.Glu314Lys
ENST00000549247.6:n.714G>A
ENST00000551114.2:n.617G>A
ENST00000553106.5:c.955G>A	ENSP00000448059.1:p.Glu319Lys
ENST00000635477.1:c.74-2478G>A
ENST00000635528.1:n.470G>A
NM_000277.1:c.955G>A	NP_000268.1:p.Glu319Lys
XM_011538422.1:c.913-2478G>A	XP_011536724.1:n.913-2478G>A
NM_000277.2:c.955G>A	NP_000268.1:p.Glu319Lys
NM_001354304.1:c.955G>A	NP_001341233.1:p.Glu319Lys
NM_000277.3:c.955G>A MANE Select	NP_000268.1:p.Glu319Lys
NM_001354304.2:c.955G>A	NP_001341233.1:p.Glu319Lys