Canonical Allele Identifier: CA274152

Gene: PAH

Linked Data

• ClinVar Variation Id: 102538
• ClinVar RCV Id: RCV000088771 ; RCV000169306 ; RCV003162523
• dbSNP Id: rs62516141
• gnomAD v2: 12-103237466-T-C
• gnomAD v3: 12-102843688-T-C
• gnomAD v4: 12-102843688-T-C
• MyVariant Identifiers: chr12:g.103237466T>C (hg19) ; chr12:g.102843688T>C (hg38)
• ERepo: CA274152/MONDO:0009861/006
• PubMed: PMID:8533759 ; PMID:9634518 ; PMID:10394930 ; PMID:11385716 ; PMID:11696894 ; PMID:12655553 ; PMID:16198137 ; PMID:16765994 ; PMID:17924342 ; PMID:18493213 ; PMID:22841515 ; PMID:23074961 ; PMID:23357515 ; PMID:23430918 ; PMID:24350308 ; PMID:24368688

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843688T>C , CM000674.2:g.102843688T>C	GRCh38
NC_000012.11:g.103237466T>C , CM000674.1:g.103237466T>C	GRCh37
NC_000012.10:g.101761596T>C	NCBI36
NG_008690.1:g.78915A>G
NG_008690.2:g.119723A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1157A>G MANE Select	ENSP00000448059.1:p.Tyr386Cys
ENST00000307000.7:c.1142A>G	ENSP00000303500.2:p.Tyr381Cys
ENST00000549247.6:n.916A>G
ENST00000551114.2:n.819A>G
ENST00000553106.5:c.1157A>G	ENSP00000448059.1:p.Tyr386Cys
ENST00000635477.1:c.261A>G
ENST00000635528.1:n.672A>G
NM_000277.1:c.1157A>G	NP_000268.1:p.Tyr386Cys
XM_011538422.1:c.1100A>G	XP_011536724.1:p.Tyr367Cys
NM_000277.2:c.1157A>G	NP_000268.1:p.Tyr386Cys
NM_001354304.1:c.1157A>G	NP_001341233.1:p.Tyr386Cys
NM_000277.3:c.1157A>G MANE Select	NP_000268.1:p.Tyr386Cys
NM_001354304.2:c.1157A>G	NP_001341233.1:p.Tyr386Cys