Canonical Allele Identifier: CA229653

Gene: PAH

Linked Data

• ClinVar Variation Id: 590
• ClinVar RCV Id: RCV000000621 ; RCV000089007
• dbSNP Id: rs62514927
• ExAC: 12:103249009 T / C
• gnomAD v2: 12-103249009-T-C
• gnomAD v3: 12-102855231-T-C
• gnomAD v4: 12-102855231-T-C
• MyVariant Identifiers: chr12:g.103249009T>C (hg19) ; chr12:g.102855231T>C (hg38)
• PubMed: PMID:1349576 ; PMID:2071149 ; PMID:7844887 ; PMID:8051931 ; PMID:8990021 ; PMID:9048935 ; PMID:9949232 ; PMID:15503242 ; PMID:15793771 ; PMID:19147918 ; PMID:23430918
• ERepo: CA229653/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855231T>C , CM000674.2:g.102855231T>C	GRCh38
NC_000012.11:g.103249009T>C , CM000674.1:g.103249009T>C	GRCh37
NC_000012.10:g.101773139T>C	NCBI36
NG_008690.1:g.67372A>G
NG_008690.2:g.108180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.611A>G MANE Select	ENSP00000448059.1:p.Tyr204Cys
ENST00000307000.7:c.596A>G	ENSP00000303500.2:p.Tyr199Cys
ENST00000549111.5:n.707A>G
ENST00000553106.5:c.611A>G	ENSP00000448059.1:p.Tyr204Cys
NM_000277.1:c.611A>G	NP_000268.1:p.Tyr204Cys
XM_011538422.1:c.611A>G	XP_011536724.1:p.Tyr204Cys
NM_000277.2:c.611A>G	NP_000268.1:p.Tyr204Cys
NM_001354304.1:c.611A>G	NP_001341233.1:p.Tyr204Cys
XM_017019370.2:c.611A>G	XP_016874859.1:p.Tyr204Cys
NM_000277.3:c.611A>G MANE Select	NP_000268.1:p.Tyr204Cys
NM_001354304.2:c.611A>G	NP_001341233.1:p.Tyr204Cys