Canonical Allele Identifier: CA2620525462
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854789A>G , CM000674.2:g.102854789A>G GRCh38
NC_000012.11:g.103248567A>G , CM000674.1:g.103248567A>G GRCh37
NC_000012.10:g.101772697A>G NCBI36
NG_008690.1:g.67814T>C
NG_008690.2:g.108622T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+347T>C MANE Select ENSP00000448059.1:n.706+347T>C
ENST00000307000.7:c.691+347T>C ENSP00000303500.2:n.691+347T>C
ENST00000549111.5:n.1149T>C
ENST00000553106.5:c.706+347T>C ENSP00000448059.1:n.706+347T>C
NM_000277.1:c.706+347T>C NP_000268.1:n.706+347T>C
XM_011538422.1:c.706+347T>C XP_011536724.1:n.706+347T>C
NM_000277.2:c.706+347T>C NP_000268.1:n.706+347T>C
NM_001354304.1:c.706+347T>C NP_001341233.1:n.706+347T>C
XM_017019370.2:c.719T>C XP_016874859.1:p.Leu240Ser
NM_000277.3:c.706+347T>C MANE Select NP_000268.1:n.706+347T>C
NM_001354304.2:c.706+347T>C NP_001341233.1:n.706+347T>C
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