Canonical Allele Identifier: CA386302790
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306668G>C (hg19) chr12:g.102912890G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912890G>C , CM000674.2:g.102912890G>C GRCh38
NC_000012.11:g.103306668G>C , CM000674.1:g.103306668G>C GRCh37
NC_000012.10:g.101830798G>C NCBI36
NG_008690.1:g.9713C>G
NG_008690.2:g.50521C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.69C>G MANE Select ENSP00000448059.1:p.Ser23Arg
ENST00000307000.7:c.54C>G ENSP00000303500.2:p.Ser18Arg
ENST00000546844.1:c.69C>G ENSP00000446658.1:p.Ser23Arg
ENST00000548677.2:n.156C>G
ENST00000549111.5:n.165C>G
ENST00000550978.6:c.53C>G
ENST00000551337.5:c.69C>G ENSP00000447620.1:p.Ser23Arg
ENST00000551988.5:n.158C>G
ENST00000553106.5:c.69C>G ENSP00000448059.1:p.Ser23Arg
ENST00000635500.1:n.37C>G
NM_000277.1:c.69C>G NP_000268.1:p.Ser23Arg
XM_011538422.1:c.69C>G XP_011536724.1:p.Ser23Arg
NM_000277.2:c.69C>G NP_000268.1:p.Ser23Arg
NM_001354304.1:c.69C>G NP_001341233.1:p.Ser23Arg
XM_017019370.2:c.69C>G XP_016874859.1:p.Ser23Arg
NM_000277.3:c.69C>G MANE Select NP_000268.1:p.Ser23Arg
NM_001354304.2:c.69C>G NP_001341233.1:p.Ser23Arg
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