Canonical Allele Identifier: CA229557

Gene: PAH

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866645A>G , CM000674.2:g.102866645A>G	GRCh38
NC_000012.11:g.103260423A>G , CM000674.1:g.103260423A>G	GRCh37
NC_000012.10:g.101784553A>G	NCBI36
NG_008690.1:g.55958T>C
NG_008690.2:g.96766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.460T>C MANE Select	ENSP00000448059.1:p.Tyr154His
ENST00000307000.7:c.445T>C	ENSP00000303500.2:p.Tyr149His
ENST00000549111.5:n.556T>C
ENST00000551988.5:n.530+10817T>C
ENST00000553106.5:c.460T>C	ENSP00000448059.1:p.Tyr154His
NM_000277.1:c.460T>C	NP_000268.1:p.Tyr154His
XM_011538422.1:c.460T>C	XP_011536724.1:p.Tyr154His
NM_000277.2:c.460T>C	NP_000268.1:p.Tyr154His
NM_001354304.1:c.460T>C	NP_001341233.1:p.Tyr154His
XM_017019370.2:c.460T>C	XP_016874859.1:p.Tyr154His
NM_000277.3:c.460T>C MANE Select	NP_000268.1:p.Tyr154His
NM_001354304.2:c.460T>C	NP_001341233.1:p.Tyr154His