Canonical Allele Identifier: CA114365

Gene: PAH

Linked Data

• ClinVar Variation Id: 618
• ClinVar RCV Id: RCV000000649 ; RCV000089157 ; RCV000169485
• dbSNP Id: rs62642934
• ExAC: 12:103240726 T / C
• gnomAD v2: 12-103240726-T-C
• gnomAD v3: 12-102846948-T-C
• gnomAD v4: 12-102846948-T-C
• MyVariant Identifiers: chr12:g.103240726T>C (hg19) ; chr12:g.102846948T>C (hg38)
• ERepo: CA114365/MONDO:0009861/006
• PubMed: PMID:1358789 ; PMID:9634518 ; PMID:11161839 ; PMID:11678552 ; PMID:12655553 ; PMID:15171997 ; PMID:16879198 ; PMID:18299955 ; PMID:18590700 ; PMID:19062537 ; PMID:19292873 ; PMID:19394257 ; PMID:19444284 ; PMID:22526846 ; PMID:23357515 ; PMID:23430918 ; PMID:23764561 ; PMID:23792259 ; PMID:24350308

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846948T>C , CM000674.2:g.102846948T>C	GRCh38
NC_000012.11:g.103240726T>C , CM000674.1:g.103240726T>C	GRCh37
NC_000012.10:g.101764856T>C	NCBI36
NG_008690.1:g.75655A>G
NG_008690.2:g.116463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.916A>G MANE Select	ENSP00000448059.1:p.Ile306Val
ENST00000307000.7:c.901A>G	ENSP00000303500.2:p.Ile301Val
ENST00000549247.6:n.675A>G
ENST00000551114.2:n.578A>G
ENST00000553106.5:c.916A>G	ENSP00000448059.1:p.Ile306Val
ENST00000635477.1:c.74-2517A>G
ENST00000635528.1:n.431A>G
NM_000277.1:c.916A>G	NP_000268.1:p.Ile306Val
XM_011538422.1:c.913-2517A>G	XP_011536724.1:n.913-2517A>G
NM_000277.2:c.916A>G	NP_000268.1:p.Ile306Val
NM_001354304.1:c.916A>G	NP_001341233.1:p.Ile306Val
NM_000277.3:c.916A>G MANE Select	NP_000268.1:p.Ile306Val
NM_001354304.2:c.916A>G	NP_001341233.1:p.Ile306Val