Canonical Allele Identifier: CA386296778
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103249043T>C (hg19) chr12:g.102855265T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.577A>G MANE Select ENSP00000448059.1:p.Thr193Ala
ENST00000307000.7:c.562A>G ENSP00000303500.2:p.Thr188Ala
ENST00000549111.5:n.673A>G
ENST00000553106.5:c.577A>G ENSP00000448059.1:p.Thr193Ala
NM_000277.1:c.577A>G NP_000268.1:p.Thr193Ala
XM_011538422.1:c.577A>G XP_011536724.1:p.Thr193Ala
NM_000277.2:c.577A>G NP_000268.1:p.Thr193Ala
NM_001354304.1:c.577A>G NP_001341233.1:p.Thr193Ala
XM_017019370.2:c.577A>G XP_016874859.1:p.Thr193Ala
NM_000277.3:c.577A>G MANE Select NP_000268.1:p.Thr193Ala
NM_001354304.2:c.577A>G NP_001341233.1:p.Thr193Ala
Search 100 bp 5'
Search 100 bp 3'