Canonical Allele Identifier: CA229776

Gene: PAH

Linked Data

• ClinVar Variation Id: 102843
• ClinVar RCV Id: RCV000089102 ; RCV000763291
• dbSNP Id: rs199475644
• gnomAD v4: 12-102852851-A-T
• MyVariant Identifiers: chr12:g.103246629A>T (hg19) ; chr12:g.102852851A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852851A>T , CM000674.2:g.102852851A>T	GRCh38
NC_000012.11:g.103246629A>T , CM000674.1:g.103246629A>T	GRCh37
NC_000012.10:g.101770759A>T	NCBI36
NG_008690.1:g.69752T>A
NG_008690.2:g.110560T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.806T>A MANE Select	ENSP00000448059.1:p.Ile269Asn
ENST00000307000.7:c.791T>A	ENSP00000303500.2:p.Ile264Asn
ENST00000549247.6:n.565T>A
ENST00000553106.5:c.806T>A	ENSP00000448059.1:p.Ile269Asn
NM_000277.1:c.806T>A	NP_000268.1:p.Ile269Asn
XM_011538422.1:c.806T>A	XP_011536724.1:p.Ile269Asn
NM_000277.2:c.806T>A	NP_000268.1:p.Ile269Asn
NM_001354304.1:c.806T>A	NP_001341233.1:p.Ile269Asn
NM_000277.3:c.806T>A MANE Select	NP_000268.1:p.Ile269Asn
NM_001354304.2:c.806T>A	NP_001341233.1:p.Ile269Asn