Canonical Allele Identifier: CA229263

Gene: PAH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844400C>G , CM000674.2:g.102844400C>G	GRCh38
NC_000012.11:g.103238178C>G , CM000674.1:g.103238178C>G	GRCh37
NC_000012.10:g.101762308C>G	NCBI36
NG_008690.1:g.78203G>C
NG_008690.2:g.119011G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1001G>C MANE Select	ENSP00000448059.1:p.Cys334Ser
ENST00000307000.7:c.986G>C	ENSP00000303500.2:p.Cys329Ser
ENST00000549247.6:n.760G>C
ENST00000551114.2:n.663G>C
ENST00000553106.5:c.1001G>C	ENSP00000448059.1:p.Cys334Ser
ENST00000635477.1:c.105G>C
ENST00000635528.1:n.516G>C
NM_000277.1:c.1001G>C	NP_000268.1:p.Cys334Ser
XM_011538422.1:c.944G>C	XP_011536724.1:p.Cys315Ser
NM_000277.2:c.1001G>C	NP_000268.1:p.Cys334Ser
NM_001354304.1:c.1001G>C	NP_001341233.1:p.Cys334Ser
NM_000277.3:c.1001G>C MANE Select	NP_000268.1:p.Cys334Ser
NM_001354304.2:c.1001G>C	NP_001341233.1:p.Cys334Ser