Canonical Allele Identifier: CA386296600

Gene: PAH

Linked Data

• ClinVar Variation Id: 1496717
• ClinVar RCV Id: RCV001992017
• dbSNP Id: rs1263259211
• MyVariant Identifiers: chr12:g.103248954A>C (hg19) ; chr12:g.102855176A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855176A>C , CM000674.2:g.102855176A>C	GRCh38
NC_000012.11:g.103248954A>C , CM000674.1:g.103248954A>C	GRCh37
NC_000012.10:g.101773084A>C	NCBI36
NG_008690.1:g.67427T>G
NG_008690.2:g.108235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.666T>G MANE Select	ENSP00000448059.1:p.Asp222Glu
ENST00000307000.7:c.651T>G	ENSP00000303500.2:p.Asp217Glu
ENST00000549111.5:n.762T>G
ENST00000553106.5:c.666T>G	ENSP00000448059.1:p.Asp222Glu
NM_000277.1:c.666T>G	NP_000268.1:p.Asp222Glu
XM_011538422.1:c.666T>G	XP_011536724.1:p.Asp222Glu
NM_000277.2:c.666T>G	NP_000268.1:p.Asp222Glu
NM_001354304.1:c.666T>G	NP_001341233.1:p.Asp222Glu
XM_017019370.2:c.666T>G	XP_016874859.1:p.Asp222Glu
NM_000277.3:c.666T>G MANE Select	NP_000268.1:p.Asp222Glu
NM_001354304.2:c.666T>G	NP_001341233.1:p.Asp222Glu