Canonical Allele Identifier: CA386295844

Gene: PAH

Linked Data

• COSMIC: COSM673809
• MyVariant Identifiers: chr12:g.103246716A>C (hg19) ; chr12:g.102852938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852938A>C , CM000674.2:g.102852938A>C	GRCh38
NC_000012.11:g.103246716A>C , CM000674.1:g.103246716A>C	GRCh37
NC_000012.10:g.101770846A>C	NCBI36
NG_008690.1:g.69665T>G
NG_008690.2:g.110473T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.719T>G MANE Select	ENSP00000448059.1:p.Phe240Cys
ENST00000307000.7:c.704T>G	ENSP00000303500.2:p.Phe235Cys
ENST00000549247.6:n.478T>G
ENST00000553106.5:c.719T>G	ENSP00000448059.1:p.Phe240Cys
NM_000277.1:c.719T>G	NP_000268.1:p.Phe240Cys
XM_011538422.1:c.719T>G	XP_011536724.1:p.Phe240Cys
NM_000277.2:c.719T>G	NP_000268.1:p.Phe240Cys
NM_001354304.1:c.719T>G	NP_001341233.1:p.Phe240Cys
NM_000277.3:c.719T>G MANE Select	NP_000268.1:p.Phe240Cys
NM_001354304.2:c.719T>G	NP_001341233.1:p.Phe240Cys