Canonical Allele Identifier: CA229576
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102698
ClinVar RCV Id: RCV000088946 RCV002251981 RCV000535090 RCV003114254
dbSNP Id: rs199475647
ExAC: 12:103260393 T / C
gnomAD v2: 12-103260393-T-C
gnomAD v3: 12-102866615-T-C
gnomAD v4: 12-102866615-T-C
MyVariant Identifiers: chr12:g.103260393T>C (hg19) chr12:g.102866615T>C (hg38)
ERepo: CA229576/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866615T>C , CM000674.2:g.102866615T>C GRCh38
NC_000012.11:g.103260393T>C , CM000674.1:g.103260393T>C GRCh37
NC_000012.10:g.101784523T>C NCBI36
NG_008690.1:g.55988A>G
NG_008690.2:g.96796A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.490A>G MANE Select ENSP00000448059.1:p.Ile164Val
ENST00000307000.7:c.475A>G ENSP00000303500.2:p.Ile159Val
ENST00000549111.5:n.586A>G
ENST00000551988.5:n.530+10847A>G
ENST00000553106.5:c.490A>G ENSP00000448059.1:p.Ile164Val
NM_000277.1:c.490A>G NP_000268.1:p.Ile164Val
XM_011538422.1:c.490A>G XP_011536724.1:p.Ile164Val
NM_000277.2:c.490A>G NP_000268.1:p.Ile164Val
NM_001354304.1:c.490A>G NP_001341233.1:p.Ile164Val
XM_017019370.2:c.490A>G XP_016874859.1:p.Ile164Val
NM_000277.3:c.490A>G MANE Select NP_000268.1:p.Ile164Val
NM_001354304.2:c.490A>G NP_001341233.1:p.Ile164Val
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