Canonical Allele Identifier: CA229516
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102651
ClinVar RCV Id: RCV000088897 RCV002259587
dbSNP Id: rs199475627
MyVariant Identifiers: chr12:g.103288536G>A (hg19) chr12:g.102894758G>A (hg38)
ERepo: CA229516/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894758G>A , CM000674.2:g.102894758G>A GRCh38
NC_000012.11:g.103288536G>A , CM000674.1:g.103288536G>A GRCh37
NC_000012.10:g.101812666G>A NCBI36
NG_008690.1:g.27845C>T
NG_008690.2:g.68653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.329C>T MANE Select ENSP00000448059.1:p.Ser110Leu
ENST00000307000.7:c.314C>T ENSP00000303500.2:p.Ser105Leu
ENST00000546844.1:c.329C>T ENSP00000446658.1:p.Ser110Leu
ENST00000548928.1:n.251C>T
ENST00000549111.5:n.425C>T
ENST00000550978.6:c.313C>T
ENST00000551337.5:c.329C>T ENSP00000447620.1:p.Ser110Leu
ENST00000551988.5:n.418C>T
ENST00000553106.5:c.329C>T ENSP00000448059.1:p.Ser110Leu
NM_000277.1:c.329C>T NP_000268.1:p.Ser110Leu
XM_011538422.1:c.329C>T XP_011536724.1:p.Ser110Leu
NM_000277.2:c.329C>T NP_000268.1:p.Ser110Leu
NM_001354304.1:c.329C>T NP_001341233.1:p.Ser110Leu
XM_017019370.2:c.329C>T XP_016874859.1:p.Ser110Leu
NM_000277.3:c.329C>T MANE Select NP_000268.1:p.Ser110Leu
NM_001354304.2:c.329C>T NP_001341233.1:p.Ser110Leu
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