Canonical Allele Identifier: CA229747
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 600
ClinVar RCV Id: RCV000000631 RCV000089083
dbSNP Id: rs62642930
MyVariant Identifiers: chr12:g.103246671A>G (hg19) chr12:g.102852893A>G (hg38)
PubMed: PMID:2014802
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852893A>G , CM000674.2:g.102852893A>G GRCh38
NC_000012.11:g.103246671A>G , CM000674.1:g.103246671A>G GRCh37
NC_000012.10:g.101770801A>G NCBI36
NG_008690.1:g.69710T>C
NG_008690.2:g.110518T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.764T>C MANE Select ENSP00000448059.1:p.Leu255Ser
ENST00000307000.7:c.749T>C ENSP00000303500.2:p.Leu250Ser
ENST00000549247.6:n.523T>C
ENST00000553106.5:c.764T>C ENSP00000448059.1:p.Leu255Ser
NM_000277.1:c.764T>C NP_000268.1:p.Leu255Ser
XM_011538422.1:c.764T>C XP_011536724.1:p.Leu255Ser
NM_000277.2:c.764T>C NP_000268.1:p.Leu255Ser
NM_001354304.1:c.764T>C NP_001341233.1:p.Leu255Ser
NM_000277.3:c.764T>C MANE Select NP_000268.1:p.Leu255Ser
NM_001354304.2:c.764T>C NP_001341233.1:p.Leu255Ser
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