Canonical Allele Identifier: CA16020878
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 558612
ClinVar RCV Id: RCV000674910
dbSNP Id: rs751203209
MyVariant Identifiers: chr12:g.103245507A>C (hg19) chr12:g.102851729A>C (hg38)
ERepo: CA16020878/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851729A>C , CM000674.2:g.102851729A>C GRCh38
NC_000012.11:g.103245507A>C , CM000674.1:g.103245507A>C GRCh37
NC_000012.10:g.101769637A>C NCBI36
NG_008690.1:g.70874T>G
NG_008690.2:g.111682T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.870T>G MANE Select ENSP00000448059.1:p.His290Gln
ENST00000307000.7:c.855T>G ENSP00000303500.2:p.His285Gln
ENST00000549247.6:n.629T>G
ENST00000551114.2:n.532T>G
ENST00000553106.5:c.870T>G ENSP00000448059.1:p.His290Gln
ENST00000635477.1:c.31T>G
NM_000277.1:c.870T>G NP_000268.1:p.His290Gln
XM_011538422.1:c.870T>G XP_011536724.1:p.His290Gln
NM_000277.2:c.870T>G NP_000268.1:p.His290Gln
NM_001354304.1:c.870T>G NP_001341233.1:p.His290Gln
NM_000277.3:c.870T>G MANE Select NP_000268.1:p.His290Gln
NM_001354304.2:c.870T>G NP_001341233.1:p.His290Gln
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