Canonical Allele Identifier: CA229659
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102761
ClinVar RCV Id: RCV000089011
dbSNP Id: rs62517170

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855226A>C , CM000674.2:g.102855226A>C GRCh38
NC_000012.11:g.103249004A>C , CM000674.1:g.103249004A>C GRCh37
NC_000012.10:g.101773134A>C NCBI36
NG_008690.1:g.67377T>G
NG_008690.2:g.108185T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.616T>G MANE Select ENSP00000448059.1:p.Tyr206Asp
ENST00000307000.7:c.601T>G ENSP00000303500.2:p.Tyr201Asp
ENST00000549111.5:n.712T>G
ENST00000553106.5:c.616T>G ENSP00000448059.1:p.Tyr206Asp
NM_000277.1:c.616T>G NP_000268.1:p.Tyr206Asp
XM_011538422.1:c.616T>G XP_011536724.1:p.Tyr206Asp
NM_000277.2:c.616T>G NP_000268.1:p.Tyr206Asp
NM_001354304.1:c.616T>G NP_001341233.1:p.Tyr206Asp
XM_017019370.2:c.616T>G XP_016874859.1:p.Tyr206Asp
NM_000277.3:c.616T>G MANE Select NP_000268.1:p.Tyr206Asp
NM_001354304.2:c.616T>G NP_001341233.1:p.Tyr206Asp