Canonical Allele Identifier: CA386302297
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102912801-C-G
MyVariant Identifiers: chr12:g.103306579C>G (hg19) chr12:g.102912801C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912801C>G , CM000674.2:g.102912801C>G GRCh38
NC_000012.11:g.103306579C>G , CM000674.1:g.103306579C>G GRCh37
NC_000012.10:g.101830709C>G NCBI36
NG_008690.1:g.9802G>C
NG_008690.2:g.50610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.158G>C MANE Select ENSP00000448059.1:p.Arg53Pro
ENST00000307000.7:c.143G>C ENSP00000303500.2:p.Arg48Pro
ENST00000546844.1:c.158G>C ENSP00000446658.1:p.Arg53Pro
ENST00000548677.2:n.245G>C
ENST00000548928.1:n.80G>C
ENST00000549111.5:n.254G>C
ENST00000550978.6:c.142G>C
ENST00000551337.5:c.158G>C ENSP00000447620.1:p.Arg53Pro
ENST00000551988.5:n.247G>C
ENST00000553106.5:c.158G>C ENSP00000448059.1:p.Arg53Pro
ENST00000635500.1:n.126G>C
NM_000277.1:c.158G>C NP_000268.1:p.Arg53Pro
XM_011538422.1:c.158G>C XP_011536724.1:p.Arg53Pro
NM_000277.2:c.158G>C NP_000268.1:p.Arg53Pro
NM_001354304.1:c.158G>C NP_001341233.1:p.Arg53Pro
XM_017019370.2:c.158G>C XP_016874859.1:p.Arg53Pro
NM_000277.3:c.158G>C MANE Select NP_000268.1:p.Arg53Pro
NM_001354304.2:c.158G>C NP_001341233.1:p.Arg53Pro
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