Canonical Allele Identifier: CA481333590
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306587T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912809T>C , CM000674.2:g.102912809T>C GRCh38
NC_000012.11:g.103306587T>C , CM000674.1:g.103306587T>C GRCh37
NC_000012.10:g.101830717T>C NCBI36
NG_008690.1:g.9794A>G
NG_008690.2:g.50602A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.150A>G MANE Select ENSP00000448059.1:p.Lys50=
ENST00000307000.7:c.135A>G ENSP00000303500.2:p.Lys45=
ENST00000546844.1:c.150A>G ENSP00000446658.1:p.Lys50=
ENST00000548677.2:n.237A>G
ENST00000548928.1:n.72A>G
ENST00000549111.5:n.246A>G
ENST00000550978.6:c.134A>G
ENST00000551337.5:c.150A>G ENSP00000447620.1:p.Lys50=
ENST00000551988.5:n.239A>G
ENST00000553106.5:c.150A>G ENSP00000448059.1:p.Lys50=
ENST00000635500.1:n.118A>G
NM_000277.1:c.150A>G NP_000268.1:p.Lys50=
XM_011538422.1:c.150A>G XP_011536724.1:p.Lys50=
NM_000277.2:c.150A>G NP_000268.1:p.Lys50=
NM_001354304.1:c.150A>G NP_001341233.1:p.Lys50=
XM_017019370.2:c.150A>G XP_016874859.1:p.Lys50=
NM_000277.3:c.150A>G MANE Select NP_000268.1:p.Lys50=
NM_001354304.2:c.150A>G NP_001341233.1:p.Lys50=
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