Canonical Allele Identifier: CA229893

Gene: PAH

Linked Data

• ClinVar Variation Id: 102924
• ClinVar RCV Id: RCV000089191 ; RCV002513935
• dbSNP Id: rs62508580
• MyVariant Identifiers: chr12:g.103238189C>G (hg19) ; chr12:g.102844411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844411C>G , CM000674.2:g.102844411C>G	GRCh38
NC_000012.11:g.103238189C>G , CM000674.1:g.103238189C>G	GRCh37
NC_000012.10:g.101762319C>G	NCBI36
NG_008690.1:g.78192G>C
NG_008690.2:g.119000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.990G>C MANE Select	ENSP00000448059.1:p.Glu330Asp
ENST00000307000.7:c.975G>C	ENSP00000303500.2:p.Glu325Asp
ENST00000549247.6:n.749G>C
ENST00000551114.2:n.652G>C
ENST00000553106.5:c.990G>C	ENSP00000448059.1:p.Glu330Asp
ENST00000635477.1:c.94G>C
ENST00000635528.1:n.505G>C
NM_000277.1:c.990G>C	NP_000268.1:p.Glu330Asp
XM_011538422.1:c.933G>C	XP_011536724.1:p.Glu311Asp
NM_000277.2:c.990G>C	NP_000268.1:p.Glu330Asp
NM_001354304.1:c.990G>C	NP_001341233.1:p.Glu330Asp
NM_000277.3:c.990G>C MANE Select	NP_000268.1:p.Glu330Asp
NM_001354304.2:c.990G>C	NP_001341233.1:p.Glu330Asp