Canonical Allele Identifier: CA229841

Gene: PAH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851692A>G , CM000674.2:g.102851692A>G	GRCh38
NC_000012.11:g.103245470A>G , CM000674.1:g.103245470A>G	GRCh37
NC_000012.10:g.101769600A>G	NCBI36
NG_008690.1:g.70911T>C
NG_008690.2:g.111719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.907T>C MANE Select	ENSP00000448059.1:p.Ser303Pro
ENST00000307000.7:c.892T>C	ENSP00000303500.2:p.Ser298Pro
ENST00000549247.6:n.666T>C
ENST00000551114.2:n.569T>C
ENST00000553106.5:c.907T>C	ENSP00000448059.1:p.Ser303Pro
ENST00000635477.1:c.68T>C
NM_000277.1:c.907T>C	NP_000268.1:p.Ser303Pro
XM_011538422.1:c.907T>C	XP_011536724.1:p.Ser303Pro
NM_000277.2:c.907T>C	NP_000268.1:p.Ser303Pro
NM_001354304.1:c.907T>C	NP_001341233.1:p.Ser303Pro
NM_000277.3:c.907T>C MANE Select	NP_000268.1:p.Ser303Pro
NM_001354304.2:c.907T>C	NP_001341233.1:p.Ser303Pro