Canonical Allele Identifier: CA229718

Gene: PAH

Linked Data

• ClinVar Variation Id: 102807
• ClinVar RCV Id: RCV000089058 ; RCV000411222
• dbSNP Id: rs199475578
• gnomAD v4: 12-102852933-G-A
• MyVariant Identifiers: chr12:g.103246711G>A (hg19) ; chr12:g.102852933G>A (hg38)
• ERepo: CA229718/MONDO:0009861/006
• PubMed: PMID:1363786 ; PMID:19915519 ; PMID:21147011 ; PMID:24190797 ; PMID:25456745 ; PMID:26600521

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852933G>A , CM000674.2:g.102852933G>A	GRCh38
NC_000012.11:g.103246711G>A , CM000674.1:g.103246711G>A	GRCh37
NC_000012.10:g.101770841G>A	NCBI36
NG_008690.1:g.69670C>T
NG_008690.2:g.110478C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.724C>T MANE Select	ENSP00000448059.1:p.Leu242Phe
ENST00000307000.7:c.709C>T	ENSP00000303500.2:p.Leu237Phe
ENST00000549247.6:n.483C>T
ENST00000553106.5:c.724C>T	ENSP00000448059.1:p.Leu242Phe
NM_000277.1:c.724C>T	NP_000268.1:p.Leu242Phe
XM_011538422.1:c.724C>T	XP_011536724.1:p.Leu242Phe
NM_000277.2:c.724C>T	NP_000268.1:p.Leu242Phe
NM_001354304.1:c.724C>T	NP_001341233.1:p.Leu242Phe
NM_000277.3:c.724C>T MANE Select	NP_000268.1:p.Leu242Phe
NM_001354304.2:c.724C>T	NP_001341233.1:p.Leu242Phe