Canonical Allele Identifier: CA229746
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102826
ClinVar RCV Id: RCV000089082
dbSNP Id: rs62642931
MyVariant Identifiers: chr12:g.103246672A>C (hg19) chr12:g.102852894A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852894A>C , CM000674.2:g.102852894A>C GRCh38
NC_000012.11:g.103246672A>C , CM000674.1:g.103246672A>C GRCh37
NC_000012.10:g.101770802A>C NCBI36
NG_008690.1:g.69709T>G
NG_008690.2:g.110517T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.763T>G MANE Select ENSP00000448059.1:p.Leu255Val
ENST00000307000.7:c.748T>G ENSP00000303500.2:p.Leu250Val
ENST00000549247.6:n.522T>G
ENST00000553106.5:c.763T>G ENSP00000448059.1:p.Leu255Val
NM_000277.1:c.763T>G NP_000268.1:p.Leu255Val
XM_011538422.1:c.763T>G XP_011536724.1:p.Leu255Val
NM_000277.2:c.763T>G NP_000268.1:p.Leu255Val
NM_001354304.1:c.763T>G NP_001341233.1:p.Leu255Val
NM_000277.3:c.763T>G MANE Select NP_000268.1:p.Leu255Val
NM_001354304.2:c.763T>G NP_001341233.1:p.Leu255Val
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