Canonical Allele Identifier: CA386303854
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103310880C>A (hg19) chr12:g.102917102C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917102C>A , CM000674.2:g.102917102C>A GRCh38
NC_000012.11:g.103310880C>A , CM000674.1:g.103310880C>A GRCh37
NC_000012.10:g.101835010C>A NCBI36
NG_008690.1:g.5501G>T
NG_008690.2:g.46309G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.29G>T MANE Select ENSP00000448059.1:p.Gly10Val
ENST00000307000.7:c.-119G>T ENSP00000303500.2:n.-119G>T
ENST00000546844.1:c.29G>T ENSP00000446658.1:p.Gly10Val
ENST00000547319.1:n.340G>T
ENST00000549111.5:n.125G>T
ENST00000550978.6:c.13G>T
ENST00000551337.5:c.29G>T ENSP00000447620.1:p.Gly10Val
ENST00000551988.5:n.118G>T
ENST00000553106.5:c.29G>T ENSP00000448059.1:p.Gly10Val
ENST00000635500.1:n.29-4204G>T
NM_000277.1:c.29G>T NP_000268.1:p.Gly10Val
XM_011538422.1:c.29G>T XP_011536724.1:p.Gly10Val
NM_000277.2:c.29G>T NP_000268.1:p.Gly10Val
NM_001354304.1:c.29G>T NP_001341233.1:p.Gly10Val
XM_017019370.2:c.29G>T XP_016874859.1:p.Gly10Val
NM_000277.3:c.29G>T MANE Select NP_000268.1:p.Gly10Val
NM_001354304.2:c.29G>T NP_001341233.1:p.Gly10Val
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