Canonical Allele Identifier: CA220591

Gene: PAH

Linked Data

• ClinVar Variation Id: 92752
• ClinVar RCV Id: RCV000078537 ; RCV000150083
• dbSNP Id: rs62514956
• ExAC: 12:103245464 C / T
• gnomAD v2: 12-103245464-C-T
• gnomAD v3: 12-102851686-C-T
• gnomAD v4: 12-102851686-C-T
• MyVariant Identifiers: chr12:g.103245464C>T (hg19) ; chr12:g.102851686C>T (hg38)
• ERepo: CA220591/MONDO:0009861/006
• PubMed: PMID:8659548 ; PMID:12649065 ; PMID:17502162 ; PMID:22841515 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851686C>T , CM000674.2:g.102851686C>T	GRCh38
NC_000012.11:g.103245464C>T , CM000674.1:g.103245464C>T	GRCh37
NC_000012.10:g.101769594C>T	NCBI36
NG_008690.1:g.70917G>A
NG_008690.2:g.111725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+1G>A MANE Select	ENSP00000448059.1:n.912+1G>A
ENST00000307000.7:c.897+1G>A	ENSP00000303500.2:n.897+1G>A
ENST00000549247.6:n.671+1G>A
ENST00000551114.2:n.574+1G>A
ENST00000553106.5:c.912+1G>A	ENSP00000448059.1:n.912+1G>A
ENST00000635477.1:c.73+1G>A
NM_000277.1:c.912+1G>A	NP_000268.1:n.912+1G>A
XM_011538422.1:c.912+1G>A	XP_011536724.1:n.912+1G>A
NM_000277.2:c.912+1G>A	NP_000268.1:n.912+1G>A
NM_001354304.1:c.912+1G>A	NP_001341233.1:n.912+1G>A
NM_000277.3:c.912+1G>A MANE Select	NP_000268.1:n.912+1G>A
NM_001354304.2:c.912+1G>A	NP_001341233.1:n.912+1G>A