Canonical Allele Identifier: CA229324

Gene: PAH

Linked Data

• ClinVar Variation Id: 623
• ClinVar RCV Id: RCV000000654 ; RCV000088742
• dbSNP Id: rs62507344
• ExAC: 12:103237560 G / A
• gnomAD v2: 12-103237560-G-A
• gnomAD v3: 12-102843782-G-A
• gnomAD v4: 12-102843782-G-A
• MyVariant Identifiers: chr12:g.103237560G>A (hg19) ; chr12:g.102843782G>A (hg38)
• PubMed: PMID:8098245 ; PMID:8533759 ; PMID:10394930 ; PMID:12655553 ; PMID:15464430 ; PMID:17502162 ; PMID:19444284 ; PMID:21147011 ; PMID:22513348 ; PMID:22526846 ; PMID:22698810 ; PMID:22841515 ; PMID:23357515 ; PMID:23430918 ; PMID:23891399 ; PMID:24350308 ; PMID:24368688
• ERepo: CA229324/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843782G>A , CM000674.2:g.102843782G>A	GRCh38
NC_000012.11:g.103237560G>A , CM000674.1:g.103237560G>A	GRCh37
NC_000012.10:g.101761690G>A	NCBI36
NG_008690.1:g.78821C>T
NG_008690.2:g.119629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1066-3C>T MANE Select	ENSP00000448059.1:n.1066-3C>T
ENST00000307000.7:c.1051-3C>T	ENSP00000303500.2:n.1051-3C>T
ENST00000549247.6:n.825-3C>T
ENST00000551114.2:n.728-3C>T
ENST00000553106.5:c.1066-3C>T	ENSP00000448059.1:n.1066-3C>T
ENST00000635477.1:c.170-3C>T
ENST00000635528.1:n.581-3C>T
NM_000277.1:c.1066-3C>T	NP_000268.1:n.1066-3C>T
XM_011538422.1:c.1009-3C>T	XP_011536724.1:n.1009-3C>T
NM_000277.2:c.1066-3C>T	NP_000268.1:n.1066-3C>T
NM_001354304.1:c.1066-3C>T	NP_001341233.1:n.1066-3C>T
NM_000277.3:c.1066-3C>T MANE Select	NP_000268.1:n.1066-3C>T
NM_001354304.2:c.1066-3C>T	NP_001341233.1:n.1066-3C>T