Canonical Allele Identifier: CA386295628
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246675A>G (hg19) chr12:g.102852897A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852897A>G , CM000674.2:g.102852897A>G GRCh38
NC_000012.11:g.103246675A>G , CM000674.1:g.103246675A>G GRCh37
NC_000012.10:g.101770805A>G NCBI36
NG_008690.1:g.69706T>C
NG_008690.2:g.110514T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.760T>C MANE Select ENSP00000448059.1:p.Phe254Leu
ENST00000307000.7:c.745T>C ENSP00000303500.2:p.Phe249Leu
ENST00000549247.6:n.519T>C
ENST00000553106.5:c.760T>C ENSP00000448059.1:p.Phe254Leu
NM_000277.1:c.760T>C NP_000268.1:p.Phe254Leu
XM_011538422.1:c.760T>C XP_011536724.1:p.Phe254Leu
NM_000277.2:c.760T>C NP_000268.1:p.Phe254Leu
NM_001354304.1:c.760T>C NP_001341233.1:p.Phe254Leu
NM_000277.3:c.760T>C MANE Select NP_000268.1:p.Phe254Leu
NM_001354304.2:c.760T>C NP_001341233.1:p.Phe254Leu
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