Canonical Allele Identifier: CA229305
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102495
ClinVar RCV Id: RCV000088726 RCV002498473
dbSNP Id: rs62508628
MyVariant Identifiers: chr12:g.103238130G>T (hg19) chr12:g.102844352G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844352G>T , CM000674.2:g.102844352G>T GRCh38
NC_000012.11:g.103238130G>T , CM000674.1:g.103238130G>T GRCh37
NC_000012.10:g.101762260G>T NCBI36
NG_008690.1:g.78251C>A
NG_008690.2:g.119059C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1049C>A MANE Select ENSP00000448059.1:p.Ser350Tyr
ENST00000307000.7:c.1034C>A ENSP00000303500.2:p.Ser345Tyr
ENST00000549247.6:n.808C>A
ENST00000551114.2:n.711C>A
ENST00000553106.5:c.1049C>A ENSP00000448059.1:p.Ser350Tyr
ENST00000635477.1:c.153C>A
ENST00000635528.1:n.564C>A
NM_000277.1:c.1049C>A NP_000268.1:p.Ser350Tyr
XM_011538422.1:c.992C>A XP_011536724.1:p.Ser331Tyr
NM_000277.2:c.1049C>A NP_000268.1:p.Ser350Tyr
NM_001354304.1:c.1049C>A NP_001341233.1:p.Ser350Tyr
NM_000277.3:c.1049C>A MANE Select NP_000268.1:p.Ser350Tyr
NM_001354304.2:c.1049C>A NP_001341233.1:p.Ser350Tyr
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