Canonical Allele Identifier: CA251524

Gene: PAH

Linked Data

• ClinVar Variation Id: 578
• ClinVar RCV Id: RCV000000608 ; RCV000089164
• dbSNP Id: rs62642936
• ExAC: 12:103240710 A / G
• gnomAD v2: 12-103240710-A-G
• gnomAD v3: 12-102846932-A-G
• gnomAD v4: 12-102846932-A-G
• MyVariant Identifiers: chr12:g.103240710A>G (hg19) ; chr12:g.102846932A>G (hg38)
• ERepo: CA251524/MONDO:0009861/006
• PubMed: PMID:2840952 ; PMID:3862128 ; PMID:8981952 ; PMID:9634518 ; PMID:10394930 ; PMID:12655553 ; PMID:15464430 ; PMID:17924342 ; PMID:17935162 ; PMID:18590700 ; PMID:19062537 ; PMID:19609714 ; PMID:21871829 ; PMID:21953985 ; PMID:22841515 ; PMID:23842451

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846932A>G , CM000674.2:g.102846932A>G	GRCh38
NC_000012.11:g.103240710A>G , CM000674.1:g.103240710A>G	GRCh37
NC_000012.10:g.101764840A>G	NCBI36
NG_008690.1:g.75671T>C
NG_008690.2:g.116479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.932T>C MANE Select	ENSP00000448059.1:p.Leu311Pro
ENST00000307000.7:c.917T>C	ENSP00000303500.2:p.Leu306Pro
ENST00000549247.6:n.691T>C
ENST00000551114.2:n.594T>C
ENST00000553106.5:c.932T>C	ENSP00000448059.1:p.Leu311Pro
ENST00000635477.1:c.74-2501T>C
ENST00000635528.1:n.447T>C
NM_000277.1:c.932T>C	NP_000268.1:p.Leu311Pro
XM_011538422.1:c.913-2501T>C	XP_011536724.1:n.913-2501T>C
NM_000277.2:c.932T>C	NP_000268.1:p.Leu311Pro
NM_001354304.1:c.932T>C	NP_001341233.1:p.Leu311Pro
NM_000277.3:c.932T>C MANE Select	NP_000268.1:p.Leu311Pro
NM_001354304.2:c.932T>C	NP_001341233.1:p.Leu311Pro