Canonical Allele Identifier: CA386493183
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843677-C-A
MyVariant Identifiers: chr12:g.103237455C>A (hg19) chr12:g.102843677C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843677C>A , CM000674.2:g.102843677C>A GRCh38
NC_000012.11:g.103237455C>A , CM000674.1:g.103237455C>A GRCh37
NC_000012.10:g.101761585C>A NCBI36
NG_008690.1:g.78926G>T
NG_008690.2:g.119734G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1168G>T MANE Select ENSP00000448059.1:p.Glu390Ter
ENST00000307000.7:c.1153G>T ENSP00000303500.2:p.Glu385Ter
ENST00000549247.6:n.927G>T
ENST00000551114.2:n.830G>T
ENST00000553106.5:c.1168G>T ENSP00000448059.1:p.Glu390Ter
ENST00000635477.1:c.272G>T
ENST00000635528.1:n.683G>T
NM_000277.1:c.1168G>T NP_000268.1:p.Glu390Ter
XM_011538422.1:c.1111G>T XP_011536724.1:p.Glu371Ter
NM_000277.2:c.1168G>T NP_000268.1:p.Glu390Ter
NM_001354304.1:c.1168G>T NP_001341233.1:p.Glu390Ter
NM_000277.3:c.1168G>T MANE Select NP_000268.1:p.Glu390Ter
NM_001354304.2:c.1168G>T NP_001341233.1:p.Glu390Ter
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