Canonical Allele Identifier: CA229815

Gene: PAH

Linked Data

• ClinVar Variation Id: 102872
• ClinVar RCV Id: RCV000089133 ; RCV000169348
• dbSNP Id: rs62516146
• ExAC: 12:103246588 C / T
• gnomAD v2: 12-103246588-C-T
• gnomAD v3: 12-102852810-C-T
• gnomAD v4: 12-102852810-C-T
• MyVariant Identifiers: chr12:g.103246588C>T (hg19) ; chr12:g.102852810C>T (hg38)
• PubMed: PMID:8889590 ; PMID:10394930 ; PMID:17502162 ; PMID:18294361 ; PMID:18299955 ; PMID:19609714 ; PMID:23430918 ; PMID:23932990 ; PMID:24401910

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852810C>T , CM000674.2:g.102852810C>T	GRCh38
NC_000012.11:g.103246588C>T , CM000674.1:g.103246588C>T	GRCh37
NC_000012.10:g.101770718C>T	NCBI36
NG_008690.1:g.69793G>A
NG_008690.2:g.110601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+5G>A MANE Select	ENSP00000448059.1:n.842+5G>A
ENST00000307000.7:c.827+5G>A	ENSP00000303500.2:n.827+5G>A
ENST00000549247.6:n.601+5G>A
ENST00000553106.5:c.842+5G>A	ENSP00000448059.1:n.842+5G>A
ENST00000635477.1:c.3+5G>A
NM_000277.1:c.842+5G>A	NP_000268.1:n.842+5G>A
XM_011538422.1:c.842+5G>A	XP_011536724.1:n.842+5G>A
NM_000277.2:c.842+5G>A	NP_000268.1:n.842+5G>A
NM_001354304.1:c.842+5G>A	NP_001341233.1:n.842+5G>A
NM_000277.3:c.842+5G>A MANE Select	NP_000268.1:n.842+5G>A
NM_001354304.2:c.842+5G>A	NP_001341233.1:n.842+5G>A