Canonical Allele Identifier: CA2620517164
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854556-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854556G>T , CM000674.2:g.102854556G>T GRCh38
NC_000012.11:g.103248334G>T , CM000674.1:g.103248334G>T GRCh37
NC_000012.10:g.101772464G>T NCBI36
NG_008690.1:g.68047C>A
NG_008690.2:g.108855C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+580C>A MANE Select ENSP00000448059.1:n.706+580C>A
ENST00000307000.7:c.691+580C>A ENSP00000303500.2:n.691+580C>A
ENST00000553106.5:c.706+580C>A ENSP00000448059.1:n.706+580C>A
NM_000277.1:c.706+580C>A NP_000268.1:n.706+580C>A
XM_011538422.1:c.706+580C>A XP_011536724.1:n.706+580C>A
NM_000277.2:c.706+580C>A NP_000268.1:n.706+580C>A
NM_001354304.1:c.706+580C>A NP_001341233.1:n.706+580C>A
XM_017019370.2:c.*229C>A XP_016874859.1:n.*229C>A
NM_000277.3:c.706+580C>A MANE Select NP_000268.1:n.706+580C>A
NM_001354304.2:c.706+580C>A NP_001341233.1:n.706+580C>A
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