Canonical Allele Identifier: CA481375614
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1262818202
gnomAD v2: 12-103237441-A-G
gnomAD v4: 12-102843663-A-G
MyVariant Identifiers: chr12:g.103237441A>G (hg19) chr12:g.102843663A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843663A>G , CM000674.2:g.102843663A>G GRCh38
NC_000012.11:g.103237441A>G , CM000674.1:g.103237441A>G GRCh37
NC_000012.10:g.101761571A>G NCBI36
NG_008690.1:g.78940T>C
NG_008690.2:g.119748T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1182T>C MANE Select ENSP00000448059.1:p.Asp394=
ENST00000307000.7:c.1167T>C ENSP00000303500.2:p.Asp389=
ENST00000549247.6:n.941T>C
ENST00000551114.2:n.844T>C
ENST00000553106.5:c.1182T>C ENSP00000448059.1:p.Asp394=
ENST00000635477.1:c.286T>C
ENST00000635528.1:n.697T>C
NM_000277.1:c.1182T>C NP_000268.1:p.Asp394=
XM_011538422.1:c.1125T>C XP_011536724.1:p.Asp375=
NM_000277.2:c.1182T>C NP_000268.1:p.Asp394=
NM_001354304.1:c.1182T>C NP_001341233.1:p.Asp394=
NM_000277.3:c.1182T>C MANE Select NP_000268.1:p.Asp394=
NM_001354304.2:c.1182T>C NP_001341233.1:p.Asp394=
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