Canonical Allele Identifier: CA273113

Gene: PAH

Linked Data

• ClinVar Variation Id: 92738
• ClinVar RCV Id: RCV000078517 ; RCV000150091 ; RCV003398669
• dbSNP Id: rs76394784
• ExAC: 12:103288661 T / A
• gnomAD v2: 12-103288661-T-A
• gnomAD v3: 12-102894883-T-A
• gnomAD v4: 12-102894883-T-A
• MyVariant Identifiers: chr12:g.103288661T>A (hg19) ; chr12:g.102894883T>A (hg38)
• ERepo: CA273113/MONDO:0009861/006
• PubMed: PMID:8889590 ; PMID:9634518 ; PMID:10394930 ; PMID:10495930 ; PMID:10693064 ; PMID:11326337 ; PMID:11524738 ; PMID:11678552 ; PMID:12655553 ; PMID:15464430 ; PMID:15557004 ; PMID:16143554 ; PMID:17513426 ; PMID:17935162 ; PMID:19609714 ; PMID:21871829 ; PMID:22841515 ; PMID:23074961 ; PMID:23430918 ; PMID:23500595 ; PMID:23764561 ; PMID:23891399 ; PMID:24350308 ; PMID:26666653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894883T>A , CM000674.2:g.102894883T>A	GRCh38
NC_000012.11:g.103288661T>A , CM000674.1:g.103288661T>A	GRCh37
NC_000012.10:g.101812791T>A	NCBI36
NG_008690.1:g.27720A>T
NG_008690.2:g.68528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.204A>T MANE Select	ENSP00000448059.1:p.Arg68Ser
ENST00000307000.7:c.189A>T	ENSP00000303500.2:p.Arg63Ser
ENST00000546844.1:c.204A>T	ENSP00000446658.1:p.Arg68Ser
ENST00000548677.2:n.291A>T
ENST00000548928.1:n.126A>T
ENST00000549111.5:n.300A>T
ENST00000550978.6:c.188A>T
ENST00000551337.5:c.204A>T	ENSP00000447620.1:p.Arg68Ser
ENST00000551988.5:n.293A>T
ENST00000553106.5:c.204A>T	ENSP00000448059.1:p.Arg68Ser
ENST00000635500.1:n.172A>T
NM_000277.1:c.204A>T	NP_000268.1:p.Arg68Ser
XM_011538422.1:c.204A>T	XP_011536724.1:p.Arg68Ser
NM_000277.2:c.204A>T	NP_000268.1:p.Arg68Ser
NM_001354304.1:c.204A>T	NP_001341233.1:p.Arg68Ser
XM_017019370.2:c.204A>T	XP_016874859.1:p.Arg68Ser
NM_000277.3:c.204A>T MANE Select	NP_000268.1:p.Arg68Ser
NM_001354304.2:c.204A>T	NP_001341233.1:p.Arg68Ser