Canonical Allele Identifier: CA386493220
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843699-G-T
MyVariant Identifiers: chr12:g.103237477G>T (hg19) chr12:g.102843699G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843699G>T , CM000674.2:g.102843699G>T GRCh38
NC_000012.11:g.103237477G>T , CM000674.1:g.103237477G>T GRCh37
NC_000012.10:g.101761607G>T NCBI36
NG_008690.1:g.78904C>A
NG_008690.2:g.119712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1146C>A MANE Select ENSP00000448059.1:p.Phe382Leu
ENST00000307000.7:c.1131C>A ENSP00000303500.2:p.Phe377Leu
ENST00000549247.6:n.905C>A
ENST00000551114.2:n.808C>A
ENST00000553106.5:c.1146C>A ENSP00000448059.1:p.Phe382Leu
ENST00000635477.1:c.250C>A
ENST00000635528.1:n.661C>A
NM_000277.1:c.1146C>A NP_000268.1:p.Phe382Leu
XM_011538422.1:c.1089C>A XP_011536724.1:p.Phe363Leu
NM_000277.2:c.1146C>A NP_000268.1:p.Phe382Leu
NM_001354304.1:c.1146C>A NP_001341233.1:p.Phe382Leu
NM_000277.3:c.1146C>A MANE Select NP_000268.1:p.Phe382Leu
NM_001354304.2:c.1146C>A NP_001341233.1:p.Phe382Leu
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