Canonical Allele Identifier: CA220576

Gene: PAH

Linked Data

• ClinVar Variation Id: 92727
• ClinVar RCV Id: RCV000078498 ; RCV000150080 ; RCV002251963 ; RCV002514381 ; RCV003944994
• dbSNP Id: rs62516092
• ExAC: 12:103238137 G / C
• gnomAD v2: 12-103238137-G-C
• gnomAD v3: 12-102844359-G-C
• gnomAD v4: 12-102844359-G-C
• MyVariant Identifiers: chr12:g.103238137G>C (hg19) ; chr12:g.102844359G>C (hg38)
• PubMed: PMID:1301187 ; PMID:8533759 ; PMID:9012412 ; PMID:10479481 ; PMID:10679941 ; PMID:11180595 ; PMID:11385716 ; PMID:11524738 ; PMID:12655553 ; PMID:15464430 ; PMID:17935162 ; PMID:18937047 ; PMID:20082265 ; PMID:21953985 ; PMID:23500595 ; PMID:24190797 ; PMID:24350308 ; PMID:25596310

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844359G>C , CM000674.2:g.102844359G>C	GRCh38
NC_000012.11:g.103238137G>C , CM000674.1:g.103238137G>C	GRCh37
NC_000012.10:g.101762267G>C	NCBI36
NG_008690.1:g.78244C>G
NG_008690.2:g.119052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1042C>G MANE Select	ENSP00000448059.1:p.Leu348Val
ENST00000307000.7:c.1027C>G	ENSP00000303500.2:p.Leu343Val
ENST00000549247.6:n.801C>G
ENST00000551114.2:n.704C>G
ENST00000553106.5:c.1042C>G	ENSP00000448059.1:p.Leu348Val
ENST00000635477.1:c.146C>G
ENST00000635528.1:n.557C>G
NM_000277.1:c.1042C>G	NP_000268.1:p.Leu348Val
XM_011538422.1:c.985C>G	XP_011536724.1:p.Leu329Val
NM_000277.2:c.1042C>G	NP_000268.1:p.Leu348Val
NM_001354304.1:c.1042C>G	NP_001341233.1:p.Leu348Val
NM_000277.3:c.1042C>G MANE Select	NP_000268.1:p.Leu348Val
NM_001354304.2:c.1042C>G	NP_001341233.1:p.Leu348Val