Canonical Allele Identifier: CA251522

Gene: PAH

Linked Data

• ClinVar Variation Id: 576
• ClinVar RCV Id: RCV000000606 ; RCV000078510 ; RCV000622610 ; RCV003407249
• dbSNP Id: rs5030861
• ExAC: 12:103234177 C / T
• gnomAD v2: 12-103234177-C-T
• gnomAD v3: 12-102840399-C-T
• gnomAD v4: 12-102840399-C-T
• MyVariant Identifiers: chr12:g.103234177C>T (hg19) ; chr12:g.102840399C>T (hg38)
• PubMed: PMID:3008810 ; PMID:3615198 ; PMID:8406445 ; PMID:9399896 ; PMID:11043162 ; PMID:11328945 ; PMID:11581453 ; PMID:14760268 ; PMID:15171997 ; PMID:15665165 ; PMID:17410469 ; PMID:17443661 ; PMID:17935162 ; PMID:18566668 ; PMID:20188615 ; PMID:20301677 ; PMID:22526846 ; PMID:22965559 ; PMID:23514811 ; PMID:23792259 ; PMID:23891399 ; PMID:24190797 ; PMID:24368688 ; PMID:25596310
• ERepo: CA251522/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840399C>T , CM000674.2:g.102840399C>T	GRCh38
NC_000012.11:g.103234177C>T , CM000674.1:g.103234177C>T	GRCh37
NC_000012.10:g.101758307C>T	NCBI36
NG_008690.1:g.82204G>A
NG_008690.2:g.123012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1315+1G>A MANE Select	ENSP00000448059.1:n.1315+1G>A
ENST00000307000.7:c.1300+1G>A	ENSP00000303500.2:n.1300+1G>A
ENST00000551114.2:n.977+1G>A
ENST00000553106.5:c.1315+1G>A	ENSP00000448059.1:n.1315+1G>A
ENST00000635477.1:c.419+1G>A
ENST00000635528.1:n.830+1G>A
NM_000277.1:c.1315+1G>A	NP_000268.1:n.1315+1G>A
XM_011538422.1:c.1258+1G>A	XP_011536724.1:n.1258+1G>A
NM_000277.2:c.1315+1G>A	NP_000268.1:n.1315+1G>A
NM_001354304.1:c.1315+1G>A	NP_001341233.1:n.1315+1G>A
NM_000277.3:c.1315+1G>A MANE Select	NP_000268.1:n.1315+1G>A
NM_001354304.2:c.1315+1G>A	NP_001341233.1:n.1315+1G>A