Canonical Allele Identifier: CA386294530

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103246595T>G (hg19) ; chr12:g.102852817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852817T>G , CM000674.2:g.102852817T>G	GRCh38
NC_000012.11:g.103246595T>G , CM000674.1:g.103246595T>G	GRCh37
NC_000012.10:g.101770725T>G	NCBI36
NG_008690.1:g.69786A>C
NG_008690.2:g.110594A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.840A>C MANE Select	ENSP00000448059.1:p.Glu280Asp
ENST00000307000.7:c.825A>C	ENSP00000303500.2:p.Glu275Asp
ENST00000549247.6:n.599A>C
ENST00000553106.5:c.840A>C	ENSP00000448059.1:p.Glu280Asp
ENST00000635477.1:c.1A>C
NM_000277.1:c.840A>C	NP_000268.1:p.Glu280Asp
XM_011538422.1:c.840A>C	XP_011536724.1:p.Glu280Asp
NM_000277.2:c.840A>C	NP_000268.1:p.Glu280Asp
NM_001354304.1:c.840A>C	NP_001341233.1:p.Glu280Asp
NM_000277.3:c.840A>C MANE Select	NP_000268.1:p.Glu280Asp
NM_001354304.2:c.840A>C	NP_001341233.1:p.Glu280Asp