Canonical Allele Identifier: CA386303876

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103310889T>C (hg19) ; chr12:g.102917111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917111T>C , CM000674.2:g.102917111T>C	GRCh38
NC_000012.11:g.103310889T>C , CM000674.1:g.103310889T>C	GRCh37
NC_000012.10:g.101835019T>C	NCBI36
NG_008690.1:g.5492A>G
NG_008690.2:g.46300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.20A>G MANE Select	ENSP00000448059.1:p.Glu7Gly
ENST00000307000.7:c.-128A>G	ENSP00000303500.2:n.-128A>G
ENST00000546844.1:c.20A>G	ENSP00000446658.1:p.Glu7Gly
ENST00000547319.1:n.331A>G
ENST00000549111.5:n.116A>G
ENST00000550978.6:c.4A>G
ENST00000551337.5:c.20A>G	ENSP00000447620.1:p.Glu7Gly
ENST00000551988.5:n.109A>G
ENST00000553106.5:c.20A>G	ENSP00000448059.1:p.Glu7Gly
ENST00000635500.1:n.29-4213A>G
NM_000277.1:c.20A>G	NP_000268.1:p.Glu7Gly
XM_011538422.1:c.20A>G	XP_011536724.1:p.Glu7Gly
NM_000277.2:c.20A>G	NP_000268.1:p.Glu7Gly
NM_001354304.1:c.20A>G	NP_001341233.1:p.Glu7Gly
XM_017019370.2:c.20A>G	XP_016874859.1:p.Glu7Gly
NM_000277.3:c.20A>G MANE Select	NP_000268.1:p.Glu7Gly
NM_001354304.2:c.20A>G	NP_001341233.1:p.Glu7Gly