Canonical Allele Identifier: CA114362

Gene: PAH

Linked Data

• ClinVar Variation Id: 593
• ClinVar RCV Id: RCV000000624 ; RCV000078508 ; RCV000150074 ; RCV002287315 ; RCV003398401
• dbSNP Id: rs5030860
• ExAC: 12:103234252 T / C
• gnomAD v2: 12-103234252-T-C
• gnomAD v3: 12-102840474-T-C
• gnomAD v4: 12-102840474-T-C
• MyVariant Identifiers: chr12:g.103234252T>C (hg19) ; chr12:g.102840474T>C (hg38)
• ERepo: CA114362/MONDO:0009861/006
• PubMed: PMID:2014036 ; PMID:2044609 ; PMID:8889590 ; PMID:9399896 ; PMID:9450897 ; PMID:10479481 ; PMID:11385716 ; PMID:12501224 ; PMID:12655546 ; PMID:12655553 ; PMID:14741196 ; PMID:15557004 ; PMID:17935162 ; PMID:18538294 ; PMID:20063067 ; PMID:21953985 ; PMID:22112818 ; PMID:22526846 ; PMID:23500595 ; PMID:23891399 ; PMID:25596310 ; PMID:26666653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840474T>C , CM000674.2:g.102840474T>C	GRCh38
NC_000012.11:g.103234252T>C , CM000674.1:g.103234252T>C	GRCh37
NC_000012.10:g.101758382T>C	NCBI36
NG_008690.1:g.82129A>G
NG_008690.2:g.122937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1241A>G MANE Select	ENSP00000448059.1:p.Tyr414Cys
ENST00000307000.7:c.1226A>G	ENSP00000303500.2:p.Tyr409Cys
ENST00000551114.2:n.903A>G
ENST00000553106.5:c.1241A>G	ENSP00000448059.1:p.Tyr414Cys
ENST00000635477.1:c.345A>G
ENST00000635528.1:n.756A>G
NM_000277.1:c.1241A>G	NP_000268.1:p.Tyr414Cys
XM_011538422.1:c.1184A>G	XP_011536724.1:p.Tyr395Cys
NM_000277.2:c.1241A>G	NP_000268.1:p.Tyr414Cys
NM_001354304.1:c.1241A>G	NP_001341233.1:p.Tyr414Cys
NM_000277.3:c.1241A>G MANE Select	NP_000268.1:p.Tyr414Cys
NM_001354304.2:c.1241A>G	NP_001341233.1:p.Tyr414Cys