Canonical Allele Identifier: CA386302048
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103271244T>G (hg19) chr12:g.102877466T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877466T>G , CM000674.2:g.102877466T>G GRCh38
NC_000012.11:g.103271244T>G , CM000674.1:g.103271244T>G GRCh37
NC_000012.10:g.101795374T>G NCBI36
NG_008690.1:g.45137A>C
NG_008690.2:g.85945A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.437A>C MANE Select ENSP00000448059.1:p.His146Pro
ENST00000307000.7:c.422A>C ENSP00000303500.2:p.His141Pro
ENST00000549111.5:n.533A>C
ENST00000550978.6:c.421A>C
ENST00000551988.5:n.526A>C
ENST00000553106.5:c.437A>C ENSP00000448059.1:p.His146Pro
NM_000277.1:c.437A>C NP_000268.1:p.His146Pro
XM_011538422.1:c.437A>C XP_011536724.1:p.His146Pro
NM_000277.2:c.437A>C NP_000268.1:p.His146Pro
NM_001354304.1:c.437A>C NP_001341233.1:p.His146Pro
XM_017019370.2:c.437A>C XP_016874859.1:p.His146Pro
NM_000277.3:c.437A>C MANE Select NP_000268.1:p.His146Pro
NM_001354304.2:c.437A>C NP_001341233.1:p.His146Pro
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