Canonical Allele Identifier: CA951241132
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875930260
gnomAD v3: 12-102865814-T-A
gnomAD v4: 12-102865814-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865814T>A , CM000674.2:g.102865814T>A GRCh38
NC_000012.11:g.103259592T>A , CM000674.1:g.103259592T>A GRCh37
NC_000012.10:g.101783722T>A NCBI36
NG_008690.1:g.56789A>T
NG_008690.2:g.97597A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+782A>T MANE Select ENSP00000448059.1:n.509+782A>T
ENST00000307000.7:c.494+782A>T ENSP00000303500.2:n.494+782A>T
ENST00000549111.5:n.605+782A>T
ENST00000551988.5:n.531-10482A>T
ENST00000553106.5:c.509+782A>T ENSP00000448059.1:n.509+782A>T
NM_000277.1:c.509+782A>T NP_000268.1:n.509+782A>T
XM_011538422.1:c.509+782A>T XP_011536724.1:n.509+782A>T
NM_000277.2:c.509+782A>T NP_000268.1:n.509+782A>T
NM_001354304.1:c.509+782A>T NP_001341233.1:n.509+782A>T
XM_017019370.2:c.509+782A>T XP_016874859.1:n.509+782A>T
NM_000277.3:c.509+782A>T MANE Select NP_000268.1:n.509+782A>T
NM_001354304.2:c.509+782A>T NP_001341233.1:n.509+782A>T
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