Canonical Allele Identifier: CA386304171
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2573214
ClinVar RCV Id: RCV003316903
dbSNP Id: rs1877431851
MyVariant Identifiers: chr12:g.103288636A>G (hg19) chr12:g.102894858A>G (hg38)
ERepo: CA386304171/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894858A>G , CM000674.2:g.102894858A>G GRCh38
NC_000012.11:g.103288636A>G , CM000674.1:g.103288636A>G GRCh37
NC_000012.10:g.101812766A>G NCBI36
NG_008690.1:g.27745T>C
NG_008690.2:g.68553T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.229T>C MANE Select ENSP00000448059.1:p.Tyr77His
ENST00000307000.7:c.214T>C ENSP00000303500.2:p.Tyr72His
ENST00000546844.1:c.229T>C ENSP00000446658.1:p.Tyr77His
ENST00000548677.2:n.316T>C
ENST00000548928.1:n.151T>C
ENST00000549111.5:n.325T>C
ENST00000550978.6:c.213T>C
ENST00000551337.5:c.229T>C ENSP00000447620.1:p.Tyr77His
ENST00000551988.5:n.318T>C
ENST00000553106.5:c.229T>C ENSP00000448059.1:p.Tyr77His
NM_000277.1:c.229T>C NP_000268.1:p.Tyr77His
XM_011538422.1:c.229T>C XP_011536724.1:p.Tyr77His
NM_000277.2:c.229T>C NP_000268.1:p.Tyr77His
NM_001354304.1:c.229T>C NP_001341233.1:p.Tyr77His
XM_017019370.2:c.229T>C XP_016874859.1:p.Tyr77His
NM_000277.3:c.229T>C MANE Select NP_000268.1:p.Tyr77His
NM_001354304.2:c.229T>C NP_001341233.1:p.Tyr77His
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