Canonical Allele Identifier: CA481331326

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103246595T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852817T>C , CM000674.2:g.102852817T>C	GRCh38
NC_000012.11:g.103246595T>C , CM000674.1:g.103246595T>C	GRCh37
NC_000012.10:g.101770725T>C	NCBI36
NG_008690.1:g.69786A>G
NG_008690.2:g.110594A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.840A>G MANE Select	ENSP00000448059.1:p.Glu280=
ENST00000307000.7:c.825A>G	ENSP00000303500.2:p.Glu275=
ENST00000549247.6:n.599A>G
ENST00000553106.5:c.840A>G	ENSP00000448059.1:p.Glu280=
ENST00000635477.1:c.1A>G
NM_000277.1:c.840A>G	NP_000268.1:p.Glu280=
XM_011538422.1:c.840A>G	XP_011536724.1:p.Glu280=
NM_000277.2:c.840A>G	NP_000268.1:p.Glu280=
NM_001354304.1:c.840A>G	NP_001341233.1:p.Glu280=
NM_000277.3:c.840A>G MANE Select	NP_000268.1:p.Glu280=
NM_001354304.2:c.840A>G	NP_001341233.1:p.Glu280=