Canonical Allele Identifier: CA229484
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102627
ClinVar RCV Id: RCV000088870 RCV001543636
dbSNP Id: rs199475639
MyVariant Identifiers: chr12:g.103288663T>C (hg19) chr12:g.102894885T>C (hg38)
ERepo: CA229484/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894885T>C , CM000674.2:g.102894885T>C GRCh38
NC_000012.11:g.103288663T>C , CM000674.1:g.103288663T>C GRCh37
NC_000012.10:g.101812793T>C NCBI36
NG_008690.1:g.27718A>G
NG_008690.2:g.68526A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.202A>G MANE Select ENSP00000448059.1:p.Arg68Gly
ENST00000307000.7:c.187A>G ENSP00000303500.2:p.Arg63Gly
ENST00000546844.1:c.202A>G ENSP00000446658.1:p.Arg68Gly
ENST00000548677.2:n.289A>G
ENST00000548928.1:n.124A>G
ENST00000549111.5:n.298A>G
ENST00000550978.6:c.186A>G
ENST00000551337.5:c.202A>G ENSP00000447620.1:p.Arg68Gly
ENST00000551988.5:n.291A>G
ENST00000553106.5:c.202A>G ENSP00000448059.1:p.Arg68Gly
ENST00000635500.1:n.170A>G
NM_000277.1:c.202A>G NP_000268.1:p.Arg68Gly
XM_011538422.1:c.202A>G XP_011536724.1:p.Arg68Gly
NM_000277.2:c.202A>G NP_000268.1:p.Arg68Gly
NM_001354304.1:c.202A>G NP_001341233.1:p.Arg68Gly
XM_017019370.2:c.202A>G XP_016874859.1:p.Arg68Gly
NM_000277.3:c.202A>G MANE Select NP_000268.1:p.Arg68Gly
NM_001354304.2:c.202A>G NP_001341233.1:p.Arg68Gly
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