Canonical Allele Identifier: CA273356

Gene: PAH

Linked Data

• ClinVar Variation Id: 102821
• ClinVar RCV Id: RCV000089076 ; RCV000153634
• dbSNP Id: rs74503222
• ExAC: 12:103246690 G / A
• gnomAD v2: 12-103246690-G-A
• gnomAD v3: 12-102852912-G-A
• gnomAD v4: 12-102852912-G-A
• MyVariant Identifiers: chr12:g.103246690G>A (hg19) ; chr12:g.102852912G>A (hg38)
• ERepo: CA273356/MONDO:0009861/006
• PubMed: PMID:18394115 ; PMID:18798839 ; PMID:21871829 ; PMID:23891399 ; PMID:24368688 ; PMID:24765287 ; PMID:25155776

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852912G>A , CM000674.2:g.102852912G>A	GRCh38
NC_000012.11:g.103246690G>A , CM000674.1:g.103246690G>A	GRCh37
NC_000012.10:g.101770820G>A	NCBI36
NG_008690.1:g.69691C>T
NG_008690.2:g.110499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.745C>T MANE Select	ENSP00000448059.1:p.Leu249Phe
ENST00000307000.7:c.730C>T	ENSP00000303500.2:p.Leu244Phe
ENST00000549247.6:n.504C>T
ENST00000553106.5:c.745C>T	ENSP00000448059.1:p.Leu249Phe
NM_000277.1:c.745C>T	NP_000268.1:p.Leu249Phe
XM_011538422.1:c.745C>T	XP_011536724.1:p.Leu249Phe
NM_000277.2:c.745C>T	NP_000268.1:p.Leu249Phe
NM_001354304.1:c.745C>T	NP_001341233.1:p.Leu249Phe
NM_000277.3:c.745C>T MANE Select	NP_000268.1:p.Leu249Phe
NM_001354304.2:c.745C>T	NP_001341233.1:p.Leu249Phe