Canonical Allele Identifier: CA386296776
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875369092
MyVariant Identifiers: chr12:g.103249043T>A (hg19) chr12:g.102855265T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855265T>A , CM000674.2:g.102855265T>A GRCh38
NC_000012.11:g.103249043T>A , CM000674.1:g.103249043T>A GRCh37
NC_000012.10:g.101773173T>A NCBI36
NG_008690.1:g.67338A>T
NG_008690.2:g.108146A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.577A>T MANE Select ENSP00000448059.1:p.Thr193Ser
ENST00000307000.7:c.562A>T ENSP00000303500.2:p.Thr188Ser
ENST00000549111.5:n.673A>T
ENST00000553106.5:c.577A>T ENSP00000448059.1:p.Thr193Ser
NM_000277.1:c.577A>T NP_000268.1:p.Thr193Ser
XM_011538422.1:c.577A>T XP_011536724.1:p.Thr193Ser
NM_000277.2:c.577A>T NP_000268.1:p.Thr193Ser
NM_001354304.1:c.577A>T NP_001341233.1:p.Thr193Ser
XM_017019370.2:c.577A>T XP_016874859.1:p.Thr193Ser
NM_000277.3:c.577A>T MANE Select NP_000268.1:p.Thr193Ser
NM_001354304.2:c.577A>T NP_001341233.1:p.Thr193Ser
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