Canonical Allele Identifier: CA229304
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102494
ClinVar RCV Id: RCV000088725 RCV001543633
dbSNP Id: rs62517183
MyVariant Identifiers: chr12:g.103238131A>T (hg19) chr12:g.102844353A>T (hg38)
ERepo: CA229304/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844353A>T , CM000674.2:g.102844353A>T GRCh38
NC_000012.11:g.103238131A>T , CM000674.1:g.103238131A>T GRCh37
NC_000012.10:g.101762261A>T NCBI36
NG_008690.1:g.78250T>A
NG_008690.2:g.119058T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1048T>A MANE Select ENSP00000448059.1:p.Ser350Thr
ENST00000307000.7:c.1033T>A ENSP00000303500.2:p.Ser345Thr
ENST00000549247.6:n.807T>A
ENST00000551114.2:n.710T>A
ENST00000553106.5:c.1048T>A ENSP00000448059.1:p.Ser350Thr
ENST00000635477.1:c.152T>A
ENST00000635528.1:n.563T>A
NM_000277.1:c.1048T>A NP_000268.1:p.Ser350Thr
XM_011538422.1:c.991T>A XP_011536724.1:p.Ser331Thr
NM_000277.2:c.1048T>A NP_000268.1:p.Ser350Thr
NM_001354304.1:c.1048T>A NP_001341233.1:p.Ser350Thr
NM_000277.3:c.1048T>A MANE Select NP_000268.1:p.Ser350Thr
NM_001354304.2:c.1048T>A NP_001341233.1:p.Ser350Thr
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