Canonical Allele Identifier: CA229599

Gene: PAH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855330C>G , CM000674.2:g.102855330C>G	GRCh38
NC_000012.11:g.103249108C>G , CM000674.1:g.103249108C>G	GRCh37
NC_000012.10:g.101773238C>G	NCBI36
NG_008690.1:g.67273G>C
NG_008690.2:g.108081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.512G>C MANE Select	ENSP00000448059.1:p.Gly171Ala
ENST00000307000.7:c.497G>C	ENSP00000303500.2:p.Gly166Ala
ENST00000549111.5:n.608G>C
ENST00000551988.5:n.533G>C
ENST00000553106.5:c.512G>C	ENSP00000448059.1:p.Gly171Ala
NM_000277.1:c.512G>C	NP_000268.1:p.Gly171Ala
XM_011538422.1:c.512G>C	XP_011536724.1:p.Gly171Ala
NM_000277.2:c.512G>C	NP_000268.1:p.Gly171Ala
NM_001354304.1:c.512G>C	NP_001341233.1:p.Gly171Ala
XM_017019370.2:c.512G>C	XP_016874859.1:p.Gly171Ala
NM_000277.3:c.512G>C MANE Select	NP_000268.1:p.Gly171Ala
NM_001354304.2:c.512G>C	NP_001341233.1:p.Gly171Ala