Canonical Allele Identifier: CA229309

Gene: PAH

Linked Data

• ClinVar Variation Id: 102497
• ClinVar RCV Id: RCV000088728 ; RCV002514541
• dbSNP Id: rs62508686
• gnomAD v4: 12-102844347-C-A
• MyVariant Identifiers: chr12:g.103238125C>A (hg19) ; chr12:g.102844347C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1054G>T MANE Select	ENSP00000448059.1:p.Gly352Cys
ENST00000307000.7:c.1039G>T	ENSP00000303500.2:p.Gly347Cys
ENST00000549247.6:n.813G>T
ENST00000551114.2:n.716G>T
ENST00000553106.5:c.1054G>T	ENSP00000448059.1:p.Gly352Cys
ENST00000635477.1:c.158G>T
ENST00000635528.1:n.569G>T
NM_000277.1:c.1054G>T	NP_000268.1:p.Gly352Cys
XM_011538422.1:c.997G>T	XP_011536724.1:p.Gly333Cys
NM_000277.2:c.1054G>T	NP_000268.1:p.Gly352Cys
NM_001354304.1:c.1054G>T	NP_001341233.1:p.Gly352Cys
NM_000277.3:c.1054G>T MANE Select	NP_000268.1:p.Gly352Cys
NM_001354304.2:c.1054G>T	NP_001341233.1:p.Gly352Cys