Canonical Allele Identifier: CA386294531

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103246596T>A (hg19) ; chr12:g.102852818T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852818T>A , CM000674.2:g.102852818T>A	GRCh38
NC_000012.11:g.103246596T>A , CM000674.1:g.103246596T>A	GRCh37
NC_000012.10:g.101770726T>A	NCBI36
NG_008690.1:g.69785A>T
NG_008690.2:g.110593A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.839A>T MANE Select	ENSP00000448059.1:p.Glu280Val
ENST00000307000.7:c.824A>T	ENSP00000303500.2:p.Glu275Val
ENST00000549247.6:n.598A>T
ENST00000553106.5:c.839A>T	ENSP00000448059.1:p.Glu280Val
NM_000277.1:c.839A>T	NP_000268.1:p.Glu280Val
XM_011538422.1:c.839A>T	XP_011536724.1:p.Glu280Val
NM_000277.2:c.839A>T	NP_000268.1:p.Glu280Val
NM_001354304.1:c.839A>T	NP_001341233.1:p.Glu280Val
NM_000277.3:c.839A>T MANE Select	NP_000268.1:p.Glu280Val
NM_001354304.2:c.839A>T	NP_001341233.1:p.Glu280Val