Canonical Allele Identifier: CA386302590
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2074268
ClinVar RCV Id: RCV002976127
MyVariant Identifiers: chr12:g.103306639C>A (hg19) chr12:g.102912861C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912861C>A , CM000674.2:g.102912861C>A GRCh38
NC_000012.11:g.103306639C>A , CM000674.1:g.103306639C>A GRCh37
NC_000012.10:g.101830769C>A NCBI36
NG_008690.1:g.9742G>T
NG_008690.2:g.50550G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.98G>T MANE Select ENSP00000448059.1:p.Gly33Val
ENST00000307000.7:c.83G>T ENSP00000303500.2:p.Gly28Val
ENST00000546844.1:c.98G>T ENSP00000446658.1:p.Gly33Val
ENST00000548677.2:n.185G>T
ENST00000548928.1:n.20G>T
ENST00000549111.5:n.194G>T
ENST00000550978.6:c.82G>T
ENST00000551337.5:c.98G>T ENSP00000447620.1:p.Gly33Val
ENST00000551988.5:n.187G>T
ENST00000553106.5:c.98G>T ENSP00000448059.1:p.Gly33Val
ENST00000635500.1:n.66G>T
NM_000277.1:c.98G>T NP_000268.1:p.Gly33Val
XM_011538422.1:c.98G>T XP_011536724.1:p.Gly33Val
NM_000277.2:c.98G>T NP_000268.1:p.Gly33Val
NM_001354304.1:c.98G>T NP_001341233.1:p.Gly33Val
XM_017019370.2:c.98G>T XP_016874859.1:p.Gly33Val
NM_000277.3:c.98G>T MANE Select NP_000268.1:p.Gly33Val
NM_001354304.2:c.98G>T NP_001341233.1:p.Gly33Val
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