Canonical Allele Identifier: CA481331562

Gene: PAH

Linked Data

• ClinVar Variation Id: 2762774
• ClinVar RCV Id: RCV003496040
• MyVariant Identifiers: chr12:g.103246703A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852925A>C , CM000674.2:g.102852925A>C	GRCh38
NC_000012.11:g.103246703A>C , CM000674.1:g.103246703A>C	GRCh37
NC_000012.10:g.101770833A>C	NCBI36
NG_008690.1:g.69678T>G
NG_008690.2:g.110486T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.732T>G MANE Select	ENSP00000448059.1:p.Pro244=
ENST00000307000.7:c.717T>G	ENSP00000303500.2:p.Pro239=
ENST00000549247.6:n.491T>G
ENST00000553106.5:c.732T>G	ENSP00000448059.1:p.Pro244=
NM_000277.1:c.732T>G	NP_000268.1:p.Pro244=
XM_011538422.1:c.732T>G	XP_011536724.1:p.Pro244=
NM_000277.2:c.732T>G	NP_000268.1:p.Pro244=
NM_001354304.1:c.732T>G	NP_001341233.1:p.Pro244=
NM_000277.3:c.732T>G MANE Select	NP_000268.1:p.Pro244=
NM_001354304.2:c.732T>G	NP_001341233.1:p.Pro244=