Canonical Allele Identifier: CA229500
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102639
ClinVar RCV Id: RCV000088883 RCV000761308
dbSNP Id: rs62514902
ExAC: 12:103288615 C / A
gnomAD v2: 12-103288615-C-A
gnomAD v3: 12-102894837-C-A
gnomAD v4: 12-102894837-C-A
MyVariant Identifiers: chr12:g.103288615C>A (hg19) chr12:g.102894837C>A (hg38)
ERepo: CA229500/MONDO:0009861/006
PubMed: PMID:23891399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894837C>A , CM000674.2:g.102894837C>A GRCh38
NC_000012.11:g.103288615C>A , CM000674.1:g.103288615C>A GRCh37
NC_000012.10:g.101812745C>A NCBI36
NG_008690.1:g.27766G>T
NG_008690.2:g.68574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.250G>T MANE Select ENSP00000448059.1:p.Asp84Tyr
ENST00000307000.7:c.235G>T ENSP00000303500.2:p.Asp79Tyr
ENST00000546844.1:c.250G>T ENSP00000446658.1:p.Asp84Tyr
ENST00000548677.2:n.337G>T
ENST00000548928.1:n.172G>T
ENST00000549111.5:n.346G>T
ENST00000550978.6:c.234G>T
ENST00000551337.5:c.250G>T ENSP00000447620.1:p.Asp84Tyr
ENST00000551988.5:n.339G>T
ENST00000553106.5:c.250G>T ENSP00000448059.1:p.Asp84Tyr
NM_000277.1:c.250G>T NP_000268.1:p.Asp84Tyr
XM_011538422.1:c.250G>T XP_011536724.1:p.Asp84Tyr
NM_000277.2:c.250G>T NP_000268.1:p.Asp84Tyr
NM_001354304.1:c.250G>T NP_001341233.1:p.Asp84Tyr
XM_017019370.2:c.250G>T XP_016874859.1:p.Asp84Tyr
NM_000277.3:c.250G>T MANE Select NP_000268.1:p.Asp84Tyr
NM_001354304.2:c.250G>T NP_001341233.1:p.Asp84Tyr
Search 100 bp 5'
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