Canonical Allele Identifier: CA2620517203
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854564-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854564T>C , CM000674.2:g.102854564T>C GRCh38
NC_000012.11:g.103248342T>C , CM000674.1:g.103248342T>C GRCh37
NC_000012.10:g.101772472T>C NCBI36
NG_008690.1:g.68039A>G
NG_008690.2:g.108847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+572A>G MANE Select ENSP00000448059.1:n.706+572A>G
ENST00000307000.7:c.691+572A>G ENSP00000303500.2:n.691+572A>G
ENST00000553106.5:c.706+572A>G ENSP00000448059.1:n.706+572A>G
NM_000277.1:c.706+572A>G NP_000268.1:n.706+572A>G
XM_011538422.1:c.706+572A>G XP_011536724.1:n.706+572A>G
NM_000277.2:c.706+572A>G NP_000268.1:n.706+572A>G
NM_001354304.1:c.706+572A>G NP_001341233.1:n.706+572A>G
XM_017019370.2:c.*221A>G XP_016874859.1:n.*221A>G
NM_000277.3:c.706+572A>G MANE Select NP_000268.1:n.706+572A>G
NM_001354304.2:c.706+572A>G NP_001341233.1:n.706+572A>G
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