Canonical Allele Identifier: CA6749041
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1719791
ClinVar RCV Id: RCV002303977
dbSNP Id: rs776829633
ExAC: 12:103306589 T / C
gnomAD v2: 12-103306589-T-C
gnomAD v4: 12-102912811-T-C
MyVariant Identifiers: chr12:g.103306589T>C (hg19) chr12:g.102912811T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912811T>C , CM000674.2:g.102912811T>C GRCh38
NC_000012.11:g.103306589T>C , CM000674.1:g.103306589T>C GRCh37
NC_000012.10:g.101830719T>C NCBI36
NG_008690.1:g.9792A>G
NG_008690.2:g.50600A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.148A>G MANE Select ENSP00000448059.1:p.Lys50Glu
ENST00000307000.7:c.133A>G ENSP00000303500.2:p.Lys45Glu
ENST00000546844.1:c.148A>G ENSP00000446658.1:p.Lys50Glu
ENST00000548677.2:n.235A>G
ENST00000548928.1:n.70A>G
ENST00000549111.5:n.244A>G
ENST00000550978.6:c.132A>G
ENST00000551337.5:c.148A>G ENSP00000447620.1:p.Lys50Glu
ENST00000551988.5:n.237A>G
ENST00000553106.5:c.148A>G ENSP00000448059.1:p.Lys50Glu
ENST00000635500.1:n.116A>G
NM_000277.1:c.148A>G NP_000268.1:p.Lys50Glu
XM_011538422.1:c.148A>G XP_011536724.1:p.Lys50Glu
NM_000277.2:c.148A>G NP_000268.1:p.Lys50Glu
NM_001354304.1:c.148A>G NP_001341233.1:p.Lys50Glu
XM_017019370.2:c.148A>G XP_016874859.1:p.Lys50Glu
NM_000277.3:c.148A>G MANE Select NP_000268.1:p.Lys50Glu
NM_001354304.2:c.148A>G NP_001341233.1:p.Lys50Glu
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