Canonical Allele Identifier: CA114363

Gene: PAH

Linked Data

• ClinVar Variation Id: 616
• ClinVar RCV Id: RCV000000647 ; RCV000089177 ; RCV000675108 ; RCV002251845
• dbSNP Id: rs62514958
• ExAC: 12:103240677 G / C
• gnomAD v2: 12-103240677-G-C
• gnomAD v3: 12-102846899-G-C
• gnomAD v4: 12-102846899-G-C
• MyVariant Identifiers: chr12:g.103240677G>C (hg19) ; chr12:g.102846899G>C (hg38)
• ERepo: CA114363/MONDO:0009861/006
• PubMed: PMID:1301200

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846899G>C , CM000674.2:g.102846899G>C	GRCh38
NC_000012.11:g.103240677G>C , CM000674.1:g.103240677G>C	GRCh37
NC_000012.10:g.101764807G>C	NCBI36
NG_008690.1:g.75704C>G
NG_008690.2:g.116512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.965C>G MANE Select	ENSP00000448059.1:p.Ala322Gly
ENST00000307000.7:c.950C>G	ENSP00000303500.2:p.Ala317Gly
ENST00000549247.6:n.724C>G
ENST00000551114.2:n.627C>G
ENST00000553106.5:c.965C>G	ENSP00000448059.1:p.Ala322Gly
ENST00000635477.1:c.74-2468C>G
ENST00000635528.1:n.480C>G
NM_000277.1:c.965C>G	NP_000268.1:p.Ala322Gly
XM_011538422.1:c.913-2468C>G	XP_011536724.1:n.913-2468C>G
NM_000277.2:c.965C>G	NP_000268.1:p.Ala322Gly
NM_001354304.1:c.965C>G	NP_001341233.1:p.Ala322Gly
NM_000277.3:c.965C>G MANE Select	NP_000268.1:p.Ala322Gly
NM_001354304.2:c.965C>G	NP_001341233.1:p.Ala322Gly