Canonical Allele Identifier: CA229479

Gene: PAH

Linked Data

• ClinVar Variation Id: 102623
• ClinVar RCV Id: RCV000088865 ; RCV000758100
• dbSNP Id: rs75193786
• MyVariant Identifiers: chr12:g.103288671A>T (hg19) ; chr12:g.102894893A>T (hg38)
• ERepo: CA229479/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894893A>T , CM000674.2:g.102894893A>T	GRCh38
NC_000012.11:g.103288671A>T , CM000674.1:g.103288671A>T	GRCh37
NC_000012.10:g.101812801A>T	NCBI36
NG_008690.1:g.27710T>A
NG_008690.2:g.68518T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.194T>A MANE Select	ENSP00000448059.1:p.Ile65Asn
ENST00000307000.7:c.179T>A	ENSP00000303500.2:p.Ile60Asn
ENST00000546844.1:c.194T>A	ENSP00000446658.1:p.Ile65Asn
ENST00000548677.2:n.281T>A
ENST00000548928.1:n.116T>A
ENST00000549111.5:n.290T>A
ENST00000550978.6:c.178T>A
ENST00000551337.5:c.194T>A	ENSP00000447620.1:p.Ile65Asn
ENST00000551988.5:n.283T>A
ENST00000553106.5:c.194T>A	ENSP00000448059.1:p.Ile65Asn
ENST00000635500.1:n.162T>A
NM_000277.1:c.194T>A	NP_000268.1:p.Ile65Asn
XM_011538422.1:c.194T>A	XP_011536724.1:p.Ile65Asn
NM_000277.2:c.194T>A	NP_000268.1:p.Ile65Asn
NM_001354304.1:c.194T>A	NP_001341233.1:p.Ile65Asn
XM_017019370.2:c.194T>A	XP_016874859.1:p.Ile65Asn
NM_000277.3:c.194T>A MANE Select	NP_000268.1:p.Ile65Asn
NM_001354304.2:c.194T>A	NP_001341233.1:p.Ile65Asn