Canonical Allele Identifier: CA229307

Gene: PAH

Linked Data

• ClinVar Variation Id: 102496
• ClinVar RCV Id: RCV000088727 ; RCV001543661
• dbSNP Id: rs62508686
• MyVariant Identifiers: chr12:g.103238125C>G (hg19) ; chr12:g.102844347C>G (hg38)
• ERepo: CA229307/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844347C>G , CM000674.2:g.102844347C>G	GRCh38
NC_000012.11:g.103238125C>G , CM000674.1:g.103238125C>G	GRCh37
NC_000012.10:g.101762255C>G	NCBI36
NG_008690.1:g.78256G>C
NG_008690.2:g.119064G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1054G>C MANE Select	ENSP00000448059.1:p.Gly352Arg
ENST00000307000.7:c.1039G>C	ENSP00000303500.2:p.Gly347Arg
ENST00000549247.6:n.813G>C
ENST00000551114.2:n.716G>C
ENST00000553106.5:c.1054G>C	ENSP00000448059.1:p.Gly352Arg
ENST00000635477.1:c.158G>C
ENST00000635528.1:n.569G>C
NM_000277.1:c.1054G>C	NP_000268.1:p.Gly352Arg
XM_011538422.1:c.997G>C	XP_011536724.1:p.Gly333Arg
NM_000277.2:c.1054G>C	NP_000268.1:p.Gly352Arg
NM_001354304.1:c.1054G>C	NP_001341233.1:p.Gly352Arg
NM_000277.3:c.1054G>C MANE Select	NP_000268.1:p.Gly352Arg
NM_001354304.2:c.1054G>C	NP_001341233.1:p.Gly352Arg