Canonical Allele Identifier: CA386294521
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1065376
ClinVar RCV Id: RCV001375891
dbSNP Id: rs1373264140
gnomAD v2: 12-103245535-C-T
gnomAD v4: 12-102851757-C-T
MyVariant Identifiers: chr12:g.103245535C>T (hg19) chr12:g.102851757C>T (hg38)
ERepo: CA386294521/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851757C>T , CM000674.2:g.102851757C>T GRCh38
NC_000012.11:g.103245535C>T , CM000674.1:g.103245535C>T GRCh37
NC_000012.10:g.101769665C>T NCBI36
NG_008690.1:g.70846G>A
NG_008690.2:g.111654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.843-1G>A MANE Select ENSP00000448059.1:n.843-1G>A
ENST00000307000.7:c.828-1G>A ENSP00000303500.2:n.828-1G>A
ENST00000549247.6:n.602-1G>A
ENST00000551114.2:n.504G>A
ENST00000553106.5:c.843-1G>A ENSP00000448059.1:n.843-1G>A
ENST00000635477.1:c.4-1G>A
NM_000277.1:c.843-1G>A NP_000268.1:n.843-1G>A
XM_011538422.1:c.843-1G>A XP_011536724.1:n.843-1G>A
NM_000277.2:c.843-1G>A NP_000268.1:n.843-1G>A
NM_001354304.1:c.843-1G>A NP_001341233.1:n.843-1G>A
NM_000277.3:c.843-1G>A MANE Select NP_000268.1:n.843-1G>A
NM_001354304.2:c.843-1G>A NP_001341233.1:n.843-1G>A
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