Canonical Allele Identifier: CA481332691

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103271291T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877513T>C , CM000674.2:g.102877513T>C	GRCh38
NC_000012.11:g.103271291T>C , CM000674.1:g.103271291T>C	GRCh37
NC_000012.10:g.101795421T>C	NCBI36
NG_008690.1:g.45090A>G
NG_008690.2:g.85898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.390A>G MANE Select	ENSP00000448059.1:p.Arg130=
ENST00000307000.7:c.375A>G	ENSP00000303500.2:p.Arg125=
ENST00000549111.5:n.486A>G
ENST00000550978.6:c.374A>G
ENST00000551337.5:c.390A>G	ENSP00000447620.1:p.Arg130=
ENST00000551988.5:n.479A>G
ENST00000553106.5:c.390A>G	ENSP00000448059.1:p.Arg130=
NM_000277.1:c.390A>G	NP_000268.1:p.Arg130=
XM_011538422.1:c.390A>G	XP_011536724.1:p.Arg130=
NM_000277.2:c.390A>G	NP_000268.1:p.Arg130=
NM_001354304.1:c.390A>G	NP_001341233.1:p.Arg130=
XM_017019370.2:c.390A>G	XP_016874859.1:p.Arg130=
NM_000277.3:c.390A>G MANE Select	NP_000268.1:p.Arg130=
NM_001354304.2:c.390A>G	NP_001341233.1:p.Arg130=