Canonical Allele Identifier: CA386296558

Gene: PAH

Linked Data

• dbSNP Id: rs1875352952
• MyVariant Identifiers: chr12:g.103248925T>C (hg19) ; chr12:g.102855147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855147T>C , CM000674.2:g.102855147T>C	GRCh38
NC_000012.11:g.103248925T>C , CM000674.1:g.103248925T>C	GRCh37
NC_000012.10:g.101773055T>C	NCBI36
NG_008690.1:g.67456A>G
NG_008690.2:g.108264A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.695A>G MANE Select	ENSP00000448059.1:p.Gln232Arg
ENST00000307000.7:c.680A>G	ENSP00000303500.2:p.Gln227Arg
ENST00000549111.5:n.791A>G
ENST00000553106.5:c.695A>G	ENSP00000448059.1:p.Gln232Arg
NM_000277.1:c.695A>G	NP_000268.1:p.Gln232Arg
XM_011538422.1:c.695A>G	XP_011536724.1:p.Gln232Arg
NM_000277.2:c.695A>G	NP_000268.1:p.Gln232Arg
NM_001354304.1:c.695A>G	NP_001341233.1:p.Gln232Arg
XM_017019370.2:c.695A>G	XP_016874859.1:p.Gln232Arg
NM_000277.3:c.695A>G MANE Select	NP_000268.1:p.Gln232Arg
NM_001354304.2:c.695A>G	NP_001341233.1:p.Gln232Arg