Canonical Allele Identifier: CA386303868

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103310886T>A (hg19) ; chr12:g.102917108T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917108T>A , CM000674.2:g.102917108T>A	GRCh38
NC_000012.11:g.103310886T>A , CM000674.1:g.103310886T>A	GRCh37
NC_000012.10:g.101835016T>A	NCBI36
NG_008690.1:g.5495A>T
NG_008690.2:g.46303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.23A>T MANE Select	ENSP00000448059.1:p.Asn8Ile
ENST00000307000.7:c.-125A>T	ENSP00000303500.2:n.-125A>T
ENST00000546844.1:c.23A>T	ENSP00000446658.1:p.Asn8Ile
ENST00000547319.1:n.334A>T
ENST00000549111.5:n.119A>T
ENST00000550978.6:c.7A>T
ENST00000551337.5:c.23A>T	ENSP00000447620.1:p.Asn8Ile
ENST00000551988.5:n.112A>T
ENST00000553106.5:c.23A>T	ENSP00000448059.1:p.Asn8Ile
ENST00000635500.1:n.29-4210A>T
NM_000277.1:c.23A>T	NP_000268.1:p.Asn8Ile
XM_011538422.1:c.23A>T	XP_011536724.1:p.Asn8Ile
NM_000277.2:c.23A>T	NP_000268.1:p.Asn8Ile
NM_001354304.1:c.23A>T	NP_001341233.1:p.Asn8Ile
XM_017019370.2:c.23A>T	XP_016874859.1:p.Asn8Ile
NM_000277.3:c.23A>T MANE Select	NP_000268.1:p.Asn8Ile
NM_001354304.2:c.23A>T	NP_001341233.1:p.Asn8Ile