Canonical Allele Identifier: CA229322
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102509
ClinVar RCV Id: RCV000088740 RCV001199985
dbSNP Id: rs62508684
MyVariant Identifiers: chr12:g.103237558C>T (hg19) chr12:g.102843780C>T (hg38)
ERepo: CA229322/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843780C>T , CM000674.2:g.102843780C>T GRCh38
NC_000012.11:g.103237558C>T , CM000674.1:g.103237558C>T GRCh37
NC_000012.10:g.101761688C>T NCBI36
NG_008690.1:g.78823G>A
NG_008690.2:g.119631G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-1G>A MANE Select ENSP00000448059.1:n.1066-1G>A
ENST00000307000.7:c.1051-1G>A ENSP00000303500.2:n.1051-1G>A
ENST00000549247.6:n.825-1G>A
ENST00000551114.2:n.728-1G>A
ENST00000553106.5:c.1066-1G>A ENSP00000448059.1:n.1066-1G>A
ENST00000635477.1:c.170-1G>A
ENST00000635528.1:n.581-1G>A
NM_000277.1:c.1066-1G>A NP_000268.1:n.1066-1G>A
XM_011538422.1:c.1009-1G>A XP_011536724.1:n.1009-1G>A
NM_000277.2:c.1066-1G>A NP_000268.1:n.1066-1G>A
NM_001354304.1:c.1066-1G>A NP_001341233.1:n.1066-1G>A
NM_000277.3:c.1066-1G>A MANE Select NP_000268.1:n.1066-1G>A
NM_001354304.2:c.1066-1G>A NP_001341233.1:n.1066-1G>A
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