Canonical Allele Identifier: CA2620525469
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854796C>A , CM000674.2:g.102854796C>A GRCh38
NC_000012.11:g.103248574C>A , CM000674.1:g.103248574C>A GRCh37
NC_000012.10:g.101772704C>A NCBI36
NG_008690.1:g.67807G>T
NG_008690.2:g.108615G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+340G>T MANE Select ENSP00000448059.1:n.706+340G>T
ENST00000307000.7:c.691+340G>T ENSP00000303500.2:n.691+340G>T
ENST00000549111.5:n.1142G>T
ENST00000553106.5:c.706+340G>T ENSP00000448059.1:n.706+340G>T
NM_000277.1:c.706+340G>T NP_000268.1:n.706+340G>T
XM_011538422.1:c.706+340G>T XP_011536724.1:n.706+340G>T
NM_000277.2:c.706+340G>T NP_000268.1:n.706+340G>T
NM_001354304.1:c.706+340G>T NP_001341233.1:n.706+340G>T
XM_017019370.2:c.712G>T XP_016874859.1:p.Ala238Ser
NM_000277.3:c.706+340G>T MANE Select NP_000268.1:n.706+340G>T
NM_001354304.2:c.706+340G>T NP_001341233.1:n.706+340G>T
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