Canonical Allele Identifier: CA229292

Gene: PAH

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844365C>T , CM000674.2:g.102844365C>T	GRCh38
NC_000012.11:g.103238143C>T , CM000674.1:g.103238143C>T	GRCh37
NC_000012.10:g.101762273C>T	NCBI36
NG_008690.1:g.78238G>A
NG_008690.2:g.119046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1036G>A MANE Select	ENSP00000448059.1:p.Gly346Arg
ENST00000307000.7:c.1021G>A	ENSP00000303500.2:p.Gly341Arg
ENST00000549247.6:n.795G>A
ENST00000551114.2:n.698G>A
ENST00000553106.5:c.1036G>A	ENSP00000448059.1:p.Gly346Arg
ENST00000635477.1:c.140G>A
ENST00000635528.1:n.551G>A
NM_000277.1:c.1036G>A	NP_000268.1:p.Gly346Arg
XM_011538422.1:c.979G>A	XP_011536724.1:p.Gly327Arg
NM_000277.2:c.1036G>A	NP_000268.1:p.Gly346Arg
NM_001354304.1:c.1036G>A	NP_001341233.1:p.Gly346Arg
NM_000277.3:c.1036G>A MANE Select	NP_000268.1:p.Gly346Arg
NM_001354304.2:c.1036G>A	NP_001341233.1:p.Gly346Arg