Canonical Allele Identifier: CA2620526683
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840334-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840334T>G , CM000674.2:g.102840334T>G GRCh38
NC_000012.11:g.103234112T>G , CM000674.1:g.103234112T>G GRCh37
NC_000012.10:g.101758242T>G NCBI36
NG_008690.1:g.82269A>C
NG_008690.2:g.123077A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+66A>C MANE Select ENSP00000448059.1:n.1315+66A>C
ENST00000307000.7:c.1300+66A>C ENSP00000303500.2:n.1300+66A>C
ENST00000551114.2:n.977+66A>C
ENST00000553106.5:c.1315+66A>C ENSP00000448059.1:n.1315+66A>C
ENST00000635477.1:c.419+66A>C
ENST00000635528.1:n.830+66A>C
NM_000277.1:c.1315+66A>C NP_000268.1:n.1315+66A>C
XM_011538422.1:c.1258+66A>C XP_011536724.1:n.1258+66A>C
NM_000277.2:c.1315+66A>C NP_000268.1:n.1315+66A>C
NM_001354304.1:c.1315+66A>C NP_001341233.1:n.1315+66A>C
NM_000277.3:c.1315+66A>C MANE Select NP_000268.1:n.1315+66A>C
NM_001354304.2:c.1315+66A>C NP_001341233.1:n.1315+66A>C
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