Canonical Allele Identifier: CA251544

Gene: PAH

Linked Data

• ClinVar Variation Id: 636
• ClinVar RCV Id: RCV000000668 ; RCV000078516 ; RCV002251847 ; RCV003398402 ; RCV004018528
• dbSNP Id: rs75193786
• ExAC: 12:103288671 A / G
• gnomAD v2: 12-103288671-A-G
• gnomAD v3: 12-102894893-A-G
• gnomAD v4: 12-102894893-A-G
• MyVariant Identifiers: chr12:g.103288671A>G (hg19) ; chr12:g.102894893A>G (hg38)
• PubMed: PMID:1301187 ; PMID:1301201 ; PMID:8533759 ; PMID:11326337 ; PMID:11524738 ; PMID:15557004 ; PMID:17935162 ; PMID:20301677 ; PMID:23500595 ; PMID:23891399 ; PMID:26666653
• ERepo: CA251544/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894893A>G , CM000674.2:g.102894893A>G	GRCh38
NC_000012.11:g.103288671A>G , CM000674.1:g.103288671A>G	GRCh37
NC_000012.10:g.101812801A>G	NCBI36
NG_008690.1:g.27710T>C
NG_008690.2:g.68518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.194T>C MANE Select	ENSP00000448059.1:p.Ile65Thr
ENST00000307000.7:c.179T>C	ENSP00000303500.2:p.Ile60Thr
ENST00000546844.1:c.194T>C	ENSP00000446658.1:p.Ile65Thr
ENST00000548677.2:n.281T>C
ENST00000548928.1:n.116T>C
ENST00000549111.5:n.290T>C
ENST00000550978.6:c.178T>C
ENST00000551337.5:c.194T>C	ENSP00000447620.1:p.Ile65Thr
ENST00000551988.5:n.283T>C
ENST00000553106.5:c.194T>C	ENSP00000448059.1:p.Ile65Thr
ENST00000635500.1:n.162T>C
NM_000277.1:c.194T>C	NP_000268.1:p.Ile65Thr
XM_011538422.1:c.194T>C	XP_011536724.1:p.Ile65Thr
NM_000277.2:c.194T>C	NP_000268.1:p.Ile65Thr
NM_001354304.1:c.194T>C	NP_001341233.1:p.Ile65Thr
XM_017019370.2:c.194T>C	XP_016874859.1:p.Ile65Thr
NM_000277.3:c.194T>C MANE Select	NP_000268.1:p.Ile65Thr
NM_001354304.2:c.194T>C	NP_001341233.1:p.Ile65Thr