Canonical Allele Identifier: CA229673

Gene: PAH

Linked Data

• ClinVar Variation Id: 102771
• ClinVar RCV Id: RCV000089021 ; RCV001789759
• dbSNP Id: rs62508718
• MyVariant Identifiers: chr12:g.103248971A>C (hg19) ; chr12:g.102855193A>C (hg38)
• ERepo: CA229673/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855193A>C , CM000674.2:g.102855193A>C	GRCh38
NC_000012.11:g.103248971A>C , CM000674.1:g.103248971A>C	GRCh37
NC_000012.10:g.101773101A>C	NCBI36
NG_008690.1:g.67410T>G
NG_008690.2:g.108218T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.649T>G MANE Select	ENSP00000448059.1:p.Cys217Gly
ENST00000307000.7:c.634T>G	ENSP00000303500.2:p.Cys212Gly
ENST00000549111.5:n.745T>G
ENST00000553106.5:c.649T>G	ENSP00000448059.1:p.Cys217Gly
NM_000277.1:c.649T>G	NP_000268.1:p.Cys217Gly
XM_011538422.1:c.649T>G	XP_011536724.1:p.Cys217Gly
NM_000277.2:c.649T>G	NP_000268.1:p.Cys217Gly
NM_001354304.1:c.649T>G	NP_001341233.1:p.Cys217Gly
XM_017019370.2:c.649T>G	XP_016874859.1:p.Cys217Gly
NM_000277.3:c.649T>G MANE Select	NP_000268.1:p.Cys217Gly
NM_001354304.2:c.649T>G	NP_001341233.1:p.Cys217Gly