Canonical Allele Identifier: CA386294406

Gene: PAH

Linked Data

• ClinVar Variation Id: 2036025
• ClinVar RCV Id: RCV002894650
• MyVariant Identifiers: chr12:g.103245507A>T (hg19) ; chr12:g.102851729A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851729A>T , CM000674.2:g.102851729A>T	GRCh38
NC_000012.11:g.103245507A>T , CM000674.1:g.103245507A>T	GRCh37
NC_000012.10:g.101769637A>T	NCBI36
NG_008690.1:g.70874T>A
NG_008690.2:g.111682T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.870T>A MANE Select	ENSP00000448059.1:p.His290Gln
ENST00000307000.7:c.855T>A	ENSP00000303500.2:p.His285Gln
ENST00000549247.6:n.629T>A
ENST00000551114.2:n.532T>A
ENST00000553106.5:c.870T>A	ENSP00000448059.1:p.His290Gln
ENST00000635477.1:c.31T>A
NM_000277.1:c.870T>A	NP_000268.1:p.His290Gln
XM_011538422.1:c.870T>A	XP_011536724.1:p.His290Gln
NM_000277.2:c.870T>A	NP_000268.1:p.His290Gln
NM_001354304.1:c.870T>A	NP_001341233.1:p.His290Gln
NM_000277.3:c.870T>A MANE Select	NP_000268.1:p.His290Gln
NM_001354304.2:c.870T>A	NP_001341233.1:p.His290Gln