Canonical Allele Identifier: CA386304126
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102894838-C-A
MyVariant Identifiers: chr12:g.103288616C>A (hg19) chr12:g.102894838C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894838C>A , CM000674.2:g.102894838C>A GRCh38
NC_000012.11:g.103288616C>A , CM000674.1:g.103288616C>A GRCh37
NC_000012.10:g.101812746C>A NCBI36
NG_008690.1:g.27765G>T
NG_008690.2:g.68573G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.249G>T MANE Select ENSP00000448059.1:p.Leu83Phe
ENST00000307000.7:c.234G>T ENSP00000303500.2:p.Leu78Phe
ENST00000546844.1:c.249G>T ENSP00000446658.1:p.Leu83Phe
ENST00000548677.2:n.336G>T
ENST00000548928.1:n.171G>T
ENST00000549111.5:n.345G>T
ENST00000550978.6:c.233G>T
ENST00000551337.5:c.249G>T ENSP00000447620.1:p.Leu83Phe
ENST00000551988.5:n.338G>T
ENST00000553106.5:c.249G>T ENSP00000448059.1:p.Leu83Phe
NM_000277.1:c.249G>T NP_000268.1:p.Leu83Phe
XM_011538422.1:c.249G>T XP_011536724.1:p.Leu83Phe
NM_000277.2:c.249G>T NP_000268.1:p.Leu83Phe
NM_001354304.1:c.249G>T NP_001341233.1:p.Leu83Phe
XM_017019370.2:c.249G>T XP_016874859.1:p.Leu83Phe
NM_000277.3:c.249G>T MANE Select NP_000268.1:p.Leu83Phe
NM_001354304.2:c.249G>T NP_001341233.1:p.Leu83Phe
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