Canonical Allele Identifier: CA2575266698
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840339-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840339G>T , CM000674.2:g.102840339G>T GRCh38
NC_000012.11:g.103234117G>T , CM000674.1:g.103234117G>T GRCh37
NC_000012.10:g.101758247G>T NCBI36
NG_008690.1:g.82264C>A
NG_008690.2:g.123072C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+61C>A MANE Select ENSP00000448059.1:n.1315+61C>A
ENST00000307000.7:c.1300+61C>A ENSP00000303500.2:n.1300+61C>A
ENST00000551114.2:n.977+61C>A
ENST00000553106.5:c.1315+61C>A ENSP00000448059.1:n.1315+61C>A
ENST00000635477.1:c.419+61C>A
ENST00000635528.1:n.830+61C>A
NM_000277.1:c.1315+61C>A NP_000268.1:n.1315+61C>A
XM_011538422.1:c.1258+61C>A XP_011536724.1:n.1258+61C>A
NM_000277.2:c.1315+61C>A NP_000268.1:n.1315+61C>A
NM_001354304.1:c.1315+61C>A NP_001341233.1:n.1315+61C>A
NM_000277.3:c.1315+61C>A MANE Select NP_000268.1:n.1315+61C>A
NM_001354304.2:c.1315+61C>A NP_001341233.1:n.1315+61C>A
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