Canonical Allele Identifier: CA229818

Gene: PAH

Linked Data

• ClinVar Variation Id: 102875
• ClinVar RCV Id: RCV000089136 ; RCV002514547
• dbSNP Id: rs199475660
• MyVariant Identifiers: chr12:g.103245532T>C (hg19) ; chr12:g.102851754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851754T>C , CM000674.2:g.102851754T>C	GRCh38
NC_000012.11:g.103245532T>C , CM000674.1:g.103245532T>C	GRCh37
NC_000012.10:g.101769662T>C	NCBI36
NG_008690.1:g.70849A>G
NG_008690.2:g.111657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.845A>G MANE Select	ENSP00000448059.1:p.Asp282Gly
ENST00000307000.7:c.830A>G	ENSP00000303500.2:p.Asp277Gly
ENST00000549247.6:n.604A>G
ENST00000551114.2:n.507A>G
ENST00000553106.5:c.845A>G	ENSP00000448059.1:p.Asp282Gly
ENST00000635477.1:c.6A>G
NM_000277.1:c.845A>G	NP_000268.1:p.Asp282Gly
XM_011538422.1:c.845A>G	XP_011536724.1:p.Asp282Gly
NM_000277.2:c.845A>G	NP_000268.1:p.Asp282Gly
NM_001354304.1:c.845A>G	NP_001341233.1:p.Asp282Gly
NM_000277.3:c.845A>G MANE Select	NP_000268.1:p.Asp282Gly
NM_001354304.2:c.845A>G	NP_001341233.1:p.Asp282Gly