Canonical Allele Identifier: CA386291629
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2432412
ClinVar RCV Id: RCV003131110
gnomAD v4: 12-102846918-C-A
MyVariant Identifiers: chr12:g.103240696C>A (hg19) chr12:g.102846918C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846918C>A , CM000674.2:g.102846918C>A GRCh38
NC_000012.11:g.103240696C>A , CM000674.1:g.103240696C>A GRCh37
NC_000012.10:g.101764826C>A NCBI36
NG_008690.1:g.75685G>T
NG_008690.2:g.116493G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.946G>T MANE Select ENSP00000448059.1:p.Glu316Ter
ENST00000307000.7:c.931G>T ENSP00000303500.2:p.Glu311Ter
ENST00000549247.6:n.705G>T
ENST00000551114.2:n.608G>T
ENST00000553106.5:c.946G>T ENSP00000448059.1:p.Glu316Ter
ENST00000635477.1:c.74-2487G>T
ENST00000635528.1:n.461G>T
NM_000277.1:c.946G>T NP_000268.1:p.Glu316Ter
XM_011538422.1:c.913-2487G>T XP_011536724.1:n.913-2487G>T
NM_000277.2:c.946G>T NP_000268.1:p.Glu316Ter
NM_001354304.1:c.946G>T NP_001341233.1:p.Glu316Ter
NM_000277.3:c.946G>T MANE Select NP_000268.1:p.Glu316Ter
NM_001354304.2:c.946G>T NP_001341233.1:p.Glu316Ter
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