Canonical Allele Identifier: CA114359

Gene: PAH

Linked Data

• ClinVar Variation Id: 583
• ClinVar RCV Id: RCV000000613 ; RCV000088884 ; RCV000763293 ; RCV002512609 ; RCV003934787
• dbSNP Id: rs62516151
• ExAC: 12:103288604 G / T
• gnomAD v2: 12-103288604-G-T
• gnomAD v3: 12-102894826-G-T
• gnomAD v4: 12-102894826-G-T
• MyVariant Identifiers: chr12:g.103288604G>T (hg19) ; chr12:g.102894826G>T (hg38)
• PubMed: PMID:8088845

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894826G>T , CM000674.2:g.102894826G>T	GRCh38
NC_000012.11:g.103288604G>T , CM000674.1:g.103288604G>T	GRCh37
NC_000012.10:g.101812734G>T	NCBI36
NG_008690.1:g.27777C>A
NG_008690.2:g.68585C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.261C>A MANE Select	ENSP00000448059.1:p.Ser87Arg
ENST00000307000.7:c.246C>A	ENSP00000303500.2:p.Ser82Arg
ENST00000546844.1:c.261C>A	ENSP00000446658.1:p.Ser87Arg
ENST00000548677.2:n.348C>A
ENST00000548928.1:n.183C>A
ENST00000549111.5:n.357C>A
ENST00000550978.6:c.245C>A
ENST00000551337.5:c.261C>A	ENSP00000447620.1:p.Ser87Arg
ENST00000551988.5:n.350C>A
ENST00000553106.5:c.261C>A	ENSP00000448059.1:p.Ser87Arg
NM_000277.1:c.261C>A	NP_000268.1:p.Ser87Arg
XM_011538422.1:c.261C>A	XP_011536724.1:p.Ser87Arg
NM_000277.2:c.261C>A	NP_000268.1:p.Ser87Arg
NM_001354304.1:c.261C>A	NP_001341233.1:p.Ser87Arg
XM_017019370.2:c.261C>A	XP_016874859.1:p.Ser87Arg
NM_000277.3:c.261C>A MANE Select	NP_000268.1:p.Ser87Arg
NM_001354304.2:c.261C>A	NP_001341233.1:p.Ser87Arg