Canonical Allele Identifier: CA229808

Gene: PAH

Linked Data

• ClinVar Variation Id: 102866
• ClinVar RCV Id: RCV000632877 ; RCV000089127
• dbSNP Id: rs62508734
• MyVariant Identifiers: chr12:g.103246596T>C (hg19) ; chr12:g.102852818T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852818T>C , CM000674.2:g.102852818T>C	GRCh38
NC_000012.11:g.103246596T>C , CM000674.1:g.103246596T>C	GRCh37
NC_000012.10:g.101770726T>C	NCBI36
NG_008690.1:g.69785A>G
NG_008690.2:g.110593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.839A>G MANE Select	ENSP00000448059.1:p.Glu280Gly
ENST00000307000.7:c.824A>G	ENSP00000303500.2:p.Glu275Gly
ENST00000549247.6:n.598A>G
ENST00000553106.5:c.839A>G	ENSP00000448059.1:p.Glu280Gly
NM_000277.1:c.839A>G	NP_000268.1:p.Glu280Gly
XM_011538422.1:c.839A>G	XP_011536724.1:p.Glu280Gly
NM_000277.2:c.839A>G	NP_000268.1:p.Glu280Gly
NM_001354304.1:c.839A>G	NP_001341233.1:p.Glu280Gly
NM_000277.3:c.839A>G MANE Select	NP_000268.1:p.Glu280Gly
NM_001354304.2:c.839A>G	NP_001341233.1:p.Glu280Gly