Canonical Allele Identifier: CA3197755589
Community Standard Title: NM_000277.3(PAH):c.706+206C=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854930G= , CM000674.2:g.102854930G= GRCh38
NC_000012.11:g.103248708G= , CM000674.1:g.103248708G= GRCh37
NC_000012.10:g.101772838G= NCBI36
NG_008690.1:g.67673C=
NG_008690.2:g.108481C=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+206C= MANE Select NP_000268.1:n.706+206C=
ENST00000553106.6:c.706+206C= MANE Select ENSP00000448059.1:n.706+206C=
NM_000277.1:c.706+206C= NP_000268.1:n.706+206C=
NM_000277.2:c.706+206C= NP_000268.1:n.706+206C=
NM_001354304.1:c.706+206C= NP_001341233.1:n.706+206C=
NM_001354304.2:c.706+206C= NP_001341233.1:n.706+206C=
ENST00000307000.7:c.691+206C= ENSP00000303500.2:n.691+206C=
ENST00000549111.5:n.1008C=
ENST00000553106.5:c.706+206C= ENSP00000448059.1:n.706+206C=
XM_011538422.1:c.706+206C= XP_011536724.1:n.706+206C=
XM_017019370.2:c.707-129C= XP_016874859.1:n.707-129C=
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