Canonical Allele Identifier: CA267678

Gene: PAH

Linked Data

• ClinVar Variation Id: 120289
• ClinVar RCV Id: RCV000106370
• dbSNP Id: rs199475654
• MyVariant Identifiers: chr12:g.103246594G>C (hg19) ; chr12:g.102852816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852816G>C , CM000674.2:g.102852816G>C	GRCh38
NC_000012.11:g.103246594G>C , CM000674.1:g.103246594G>C	GRCh37
NC_000012.10:g.101770724G>C	NCBI36
NG_008690.1:g.69787C>G
NG_008690.2:g.110595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.841C>G MANE Select	ENSP00000448059.1:p.Pro281Ala
ENST00000307000.7:c.826C>G	ENSP00000303500.2:p.Pro276Ala
ENST00000549247.6:n.600C>G
ENST00000553106.5:c.841C>G	ENSP00000448059.1:p.Pro281Ala
ENST00000635477.1:c.2C>G
NM_000277.1:c.841C>G	NP_000268.1:p.Pro281Ala
XM_011538422.1:c.841C>G	XP_011536724.1:p.Pro281Ala
NM_000277.2:c.841C>G	NP_000268.1:p.Pro281Ala
NM_001354304.1:c.841C>G	NP_001341233.1:p.Pro281Ala
NM_000277.3:c.841C>G MANE Select	NP_000268.1:p.Pro281Ala
NM_001354304.2:c.841C>G	NP_001341233.1:p.Pro281Ala