Canonical Allele Identifier: CA386303907
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103310905A>T (hg19) chr12:g.102917127A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917127A>T , CM000674.2:g.102917127A>T GRCh38
NC_000012.11:g.103310905A>T , CM000674.1:g.103310905A>T GRCh37
NC_000012.10:g.101835035A>T NCBI36
NG_008690.1:g.5476T>A
NG_008690.2:g.46284T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.4T>A MANE Select ENSP00000448059.1:p.Ser2Thr
ENST00000307000.7:c.-144T>A ENSP00000303500.2:n.-144T>A
ENST00000546844.1:c.4T>A ENSP00000446658.1:p.Ser2Thr
ENST00000547319.1:n.315T>A
ENST00000549111.5:n.100T>A
ENST00000551337.5:c.4T>A ENSP00000447620.1:p.Ser2Thr
ENST00000551988.5:n.93T>A
ENST00000553106.5:c.4T>A ENSP00000448059.1:p.Ser2Thr
ENST00000635500.1:n.29-4229T>A
NM_000277.1:c.4T>A NP_000268.1:p.Ser2Thr
XM_011538422.1:c.4T>A XP_011536724.1:p.Ser2Thr
NM_000277.2:c.4T>A NP_000268.1:p.Ser2Thr
NM_001354304.1:c.4T>A NP_001341233.1:p.Ser2Thr
XM_017019370.2:c.4T>A XP_016874859.1:p.Ser2Thr
NM_000277.3:c.4T>A MANE Select NP_000268.1:p.Ser2Thr
NM_001354304.2:c.4T>A NP_001341233.1:p.Ser2Thr
Search 100 bp 5'
Search 100 bp 3'