Canonical Allele Identifier: CA386303968

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103288534G>C (hg19) ; chr12:g.102894756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894756G>C , CM000674.2:g.102894756G>C	GRCh38
NC_000012.11:g.103288534G>C , CM000674.1:g.103288534G>C	GRCh37
NC_000012.10:g.101812664G>C	NCBI36
NG_008690.1:g.27847C>G
NG_008690.2:g.68655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.331C>G MANE Select	ENSP00000448059.1:p.Arg111Gly
ENST00000307000.7:c.316C>G	ENSP00000303500.2:p.Arg106Gly
ENST00000546844.1:c.331C>G	ENSP00000446658.1:p.Arg111Gly
ENST00000548928.1:n.253C>G
ENST00000549111.5:n.427C>G
ENST00000550978.6:c.315C>G
ENST00000551337.5:c.331C>G	ENSP00000447620.1:p.Arg111Gly
ENST00000551988.5:n.420C>G
ENST00000553106.5:c.331C>G	ENSP00000448059.1:p.Arg111Gly
NM_000277.1:c.331C>G	NP_000268.1:p.Arg111Gly
XM_011538422.1:c.331C>G	XP_011536724.1:p.Arg111Gly
NM_000277.2:c.331C>G	NP_000268.1:p.Arg111Gly
NM_001354304.1:c.331C>G	NP_001341233.1:p.Arg111Gly
XM_017019370.2:c.331C>G	XP_016874859.1:p.Arg111Gly
NM_000277.3:c.331C>G MANE Select	NP_000268.1:p.Arg111Gly
NM_001354304.2:c.331C>G	NP_001341233.1:p.Arg111Gly